Canonical Allele Identifier: CA375682269

Gene: ABO

Linked Data

• dbSNP Id: rs1834557152
• gnomAD v4: 9-133255652-C-A
• MyVariant Identifiers: chr9:g.136131039C>A (hg19) ; chr9:g.133255652C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255652C>A , CM000671.2:g.133255652C>A	GRCh38
NC_000009.11:g.136131039C>A , CM000671.1:g.136131039C>A	GRCh37
NC_000009.10:g.135120860C>A	NCBI36
NG_006669.1:g.22016G>T
NG_006669.2:g.24564G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.1108G>T
ENST00000647353.1:n.54-4500G>T
ENST00000679909.1:c.28+19510G>T	ENSP00000506089.1:n.28+19510G>T
ENST00000453660.3:n.1090G>T
ENST00000538324.2:c.1072G>T	ENSP00000483018.1:p.Ala358Ser
ENST00000611156.4:c.*14G>T	ENSP00000483265.1:n.*14G>T
NM_020469.2:c.*14G>T	NP_065202.2:n.*14G>T
NM_020469.3:c.*14G>T	NP_065202.2:n.*14G>T