Canonical Allele Identifier: CA375682203

Gene: ABO

Linked Data

• dbSNP Id: rs1247607985
• gnomAD v4: 9-133255616-G-A
• MyVariant Identifiers: chr9:g.136131003G>A (hg19) ; chr9:g.133255616G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255616G>A , CM000671.2:g.133255616G>A	GRCh38
NC_000009.11:g.136131003G>A , CM000671.1:g.136131003G>A	GRCh37
NC_000009.10:g.135120824G>A	NCBI36
NG_006669.1:g.22052C>T
NG_006669.2:g.24600C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.1144C>T
ENST00000647353.1:n.54-4464C>T
ENST00000679909.1:c.28+19546C>T	ENSP00000506089.1:n.28+19546C>T
ENST00000453660.3:n.1126C>T
ENST00000538324.2:c.1108C>T	ENSP00000483018.1:p.Arg370Cys
ENST00000611156.4:c.*50C>T	ENSP00000483265.1:n.*50C>T
NM_020469.2:c.*50C>T	NP_065202.2:n.*50C>T
NM_020469.3:c.*50C>T	NP_065202.2:n.*50C>T