Canonical Allele Identifier: CA2580573353

Gene: ABO

Linked Data

• ClinVar Variation Id: 17736
• ClinVar RCV Id: RCV000019310

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.[133255801C>T;133255928C>G;133255935G>T;133256028C>T;133256074G>A;133256205G>C;133257486T>C] , CM000671.2:g.[133255801C>T;133255928C>G;133255935G>T;133256028C>T;133256074G>A;133256205G>C;133257486T>C]	GRCh38
NC_000009.11:g.[136131188C>T;136131315C>G;136131322G>T;136131415C>T;136131461G>A;136131592G>C;136132873T>C] , CM000671.1:g.[136131188C>T;136131315C>G;136131322G>T;136131415C>T;136131461G>A;136131592G>C;136132873T>C]	GRCh37
NC_000009.10:g.[135121009C>T;135121136C>G;135121143G>T;135121236C>T;135121282G>A;135121413G>C;135122694T>C]	NCBI36
NG_006669.1:g.[20182A>G;21463C>G;21594C>T;21640G>A;21733C>A;21740G>C;21867G>A]
NG_006669.2:g.[22730A>G;24011C>G;24142C>T;24188G>A;24281C>A;24288G>C;24415G>A]

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.[326A>G;555C>G;686C>T;732G>A;825C>A;832G>C;959G>A]
ENST00000647353.1:n.[54-6334A>G;54-5053C>G;54-4922C>T;54-4876G>A;54-4783C>A;54-4776G>C;54-4649G>A]
ENST00000679909.1:c.[28+17676A>G;28+18957C>G;28+19088C>T;28+19134G>A;28+19227C>A;28+19234G>C;28+19361G>A]	ENSP00000506089.1:n.[28+17676A>G;28+18957...
ENST00000453660.3:n.[308A>G;537C>G;668C>T;714G>A;807C>A;814G>C;941G>A]
ENST00000538324.2:c.[294A>G;523C>G;654C>T;700G>A;793C>A;800G>C;927G>A]	ENSP00000483018.1:p.[Thr98=;Arg175Gly;His...
ENST00000611156.4:c.[294A>G;523C>G;654C>T;700G>A;793C>A;800G>C;927G>A]	ENSP00000483265.1:p.[Thr98=;Arg175Gly;His...
NM_020469.2:c.[297A>G;526C>G;657C>T;703G>A;796C>A;803G>C;930G>A]	NP_065202.2:p.[Thr99=;Arg176Gly;His219=;G...
NM_020469.3:c.[297A>G;526C>G;657C>T;703G>A;796C>A;803G>C;930G>A]	NP_065202.2:p.[Thr99=;Arg176Gly;His219=;G...