Canonical Allele Identifier: CA375685293

Gene: ABO

Linked Data

• dbSNP Id: rs2118941567
• gnomAD v3: 9-133255990-C-A
• gnomAD v4: 9-133255990-C-A
• MyVariant Identifiers: chr9:g.136131377C>A (hg19) ; chr9:g.133255990C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255990C>A , CM000671.2:g.133255990C>A	GRCh38
NC_000009.11:g.136131377C>A , CM000671.1:g.136131377C>A	GRCh37
NC_000009.10:g.135121198C>A	NCBI36
NG_006669.1:g.21678G>T
NG_006669.2:g.24226G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.770G>T
ENST00000647353.1:n.54-4838G>T
ENST00000679909.1:c.28+19172G>T	ENSP00000506089.1:n.28+19172G>T
ENST00000453660.3:n.752G>T
ENST00000538324.2:c.738G>T	ENSP00000483018.1:p.Glu246Asp
ENST00000611156.4:c.738G>T	ENSP00000483265.1:p.Glu246Asp
NM_020469.2:c.741G>T	NP_065202.2:p.Glu247Asp
NM_020469.3:c.741G>T	NP_065202.2:p.Glu247Asp