Transcript #00000194 (NM_000558.3, HBA1 gene)

Transcript name hemoglobin, alpha 1
Gene name HBA1 (hemoglobin, alpha 1)
Chromosome 16
Transcript - NCBI ID NM_000558.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000549.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

425 entries on 5 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

RNA change     

Protein     
+?/. 2 c.153C>R Hb Frankfurt r.(?) p.His51Gln
+?/. 2 c.171G>Y Hb Belliard r.(?) p.(Lys57Asn)
+?/. 2 c.183G>Y Hb Zambia r.(?) p.(Lys61Asn)
+?/. 2 c.186G>Y Hb J-Buda r.(?) p.(Lys62Asn)
+?/. 2 c.207C>R Hb G-Philadelphia r.(?) p.(Asn69Lys)
+?/. 2 c.258C>R Hb AYLESBURY r.(?) p.(Asp86Glu)
+?/. 1 c.36G>Y Hb Albany-Suma r.(?) p.(Lys12Asn)
+?/. 3 c.384G>Y Hb Jackson r.(?) p.(Lys128Asn)
+?/. 1 c.43T>M Hb Evanston r.(?) p.(Trp15Arg)
+?/. 1 c.51G>Y Hb Beijing r.(?) p.(Lys17Asn)
+?/. 2 c.96G>Y Hb Prato r.spl? p.(Arg32Ser)
+?/. 1 c.? Hb J-Kurosh r.(?) p.Ala20Asp
+?/. 3 c.? Hb Kenton r.(?) p.Thr135Ser
+?/. 2 c.? Hb Princes Risborough r.(?) p.Gln55His
+?/. - c.? -(alpha)5.2 r.? p.?
+?/. 2 c.? Hb Nile r.(?) p.Pro78Ser
+?/. 2 c.? Hb J-Broussais r.(?) p.Lys91Asn
+?/. 3 c.? Hb Val de Marne r.(?) p.Ser134Arg
+?/. 3 c.? Hb Zaïre r.(?) p.Glu117_Phe118insHisLeuProAlaGlu
+?/. 3 c.? Hb Phnom Penh r.(?) p.Phe118_Thr119insIle
+?/. 3 c.? Hb Grady r.(?) p.Thr119_Pro120insGluPheThr
+?/. 2 c.? Hb Neuilly-sur-Marne r.(?) p.Leu87_His88insSerAspLeu
+?/. - c.? - r.(?) -
+?/. - c.? - r.(?) -
+?/. - c.? - r.? p.?
+?/. - c.? - -(GEO) r.? p.?
+?/. - c.? - -(SPAN) r.? p.?
+?/. - c.? - -(CANT) r.? p.?
+?/. - c.? - -(SEA) r.? p.?
+?/. - c.? - -(MED-I) r.? p.?
+?/. - c.? -(alpha)20.5 r.? p.?
+?/. - c.? - -(MA) r.? p.?
+?/. - c.? - -(SA) r.? p.?
+?/. - c.? - -(BRIT) r.? p.?
+?/. - c.? - -(CL) r.? p.?
+?/. - c.? - -(FIL) r.? p.?
+?/. - c.? - -(THAI) r.? p.?
+?/. 1 c.? Hb Anantharaj r.(?) p.Lys12Glu
+?/. - c.? - -(CAL) r.? p.?
+?/. - c.? - -(MED-II) r.? p.?
+?/. - c.? - -(RT) r.? p.?
+?/. - c.? - -(MC) r.? p.?
+/. _1_3_ c.-11316_*7290del - r.? p.?
+/. _1_3_ c.-11316_*7290del - r.? p.?
+/. _1_3_ c.-11316_*7290del - r.? p.?
+/. _1_3_ c.-11316_*7290del - r.? p.?
+/. _1_3_ c.-11316_*7290del - r.? p.?
+/. _1_3_ c.-11316_*7290del - r.? p.?
+/. _1_3_ c.-11316_*7290del - r.? p.?
+/. _1_3_ c.-11316_*7290del - r.? p.?
+/. _1_3_ c.-11316_*7290del - r.? p.?
+/. _1_3_ c.-11316_*7290del - r.? p.?
+/. _1_3_ c.-11316_*7290del - r.? p.?
+/. _1_3_ c.-11316_*7290del - r.? p.?
?/. - c.-3828C>G - r.(?) p.(=)
-?/. - c.-3825C>T - r.(?) p.(=)
-?/. - c.-3798C>T - r.(?) p.(=)
+/. - c.-3736del - r.(?) p.(=)
+/. - c.-3708_-3704del - r.(?) p.(=)
-?/. - c.-3615C>T - r.(?) p.(=)
+/. - c.-3594A>G - r.(?) p.(=)
+/. - c.-3594A>G - r.(?) p.(=)
?/. - c.-3500T>G - r.(?) p.(=)
+/. _1_2 c.-3416_271del - r.? p.?
+/. _1_2 c.-3416_271del - r.? p.?
+/. _1_2 c.-3416_271del - r.? p.?
+/. _1_2 c.-3416_271del - r.? p.?
+/. _1_2 c.-3416_271del - r.? p.?
+/. _1_2 c.-3416_271del - r.? p.?
+/. _1_2 c.-3416_271del - r.? p.?
+/. _1_2 c.-3416_271del - r.? p.?
+/. _1_2 c.-3416_271del - r.? p.?
+/. _1_2 c.-3416_271del - r.? p.?
+/. _1_2 c.-3416_271del - r.? p.?
+/. _1_2 c.-3416_271del - r.? p.?
+/. _1_2 c.-3416_271del - r.? p.?
+/. _1_2 c.-3416_271del - r.? p.?
+/. _1_2 c.-3416_271del - r.? p.?
+/. _1_2 c.-3416_271del - r.? p.?
+/. _1_2 c.-3416_271del - r.? p.?
+/. _1_2 c.-3416_271del - r.? p.?
+/. _1_2 c.-3416_271del - r.? p.?
+/. _1_2 c.-3416_271del - r.? p.?
+/. _1_2 c.-3416_271del - r.? p.?
+/. _1_2 c.-3416_271del - r.? p.?
+/. _1_2 c.-3416_271del - r.? p.?
+/. _1_2 c.-3416_271del - r.? p.?
+/. _1_2 c.-3416_271del - r.? p.?
+/. _1_2 c.-3416_271dup - r.? p.?
-/. - c.-3274G>C - r.(?) p.(=)
-/. - c.-3269G>C - r.(?) p.(=)
+/. - c.-3119T>C - r.(?) p.(=)
+/. - c.-3025A>G - r.(?) p.(=)
?/. _1_3_ c.-37-u25059_*110+d4774del - r.(?) p.?
?/. _1_3_ c.-37-u25059_*110+d4774del - r.(?) p.?
?/. _1_3_ c.-37-u25059_*110+d4774del - r.(?) p.?
+?/. 1 c.-16T>C - r.(?) p.(=)
+?/. 1 c.1A>G - r.(?) p.0?
+?/. 1 c.2T>A - r.(?) p.0?
+?/. 1 c.4G>T Hb Baldock r.(?) p.(Val2Leu)
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