Canonical Allele Identifier: CA200765027

Gene: ABO

Linked Data

• dbSNP Id: rs7466519
• gnomAD v2: 9-136131002-C-T
• gnomAD v3: 9-133255615-C-T
• gnomAD v4: 9-133255615-C-T
• MyVariant Identifiers: chr9:g.136131002C>T (hg19) ; chr9:g.133255615C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255615C>T , CM000671.2:g.133255615C>T	GRCh38
NC_000009.11:g.136131002C>T , CM000671.1:g.136131002C>T	GRCh37
NC_000009.10:g.135120823C>T	NCBI36
NG_006669.1:g.22053G>A
NG_006669.2:g.24601G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.1145G>A
ENST00000647353.1:n.54-4463G>A
ENST00000679909.1:c.28+19547G>A	ENSP00000506089.1:n.28+19547G>A
ENST00000453660.3:n.1127G>A
ENST00000538324.2:c.1109G>A	ENSP00000483018.1:p.Arg370His
ENST00000611156.4:c.*51G>A	ENSP00000483265.1:n.*51G>A
NM_020469.2:c.*51G>A	NP_065202.2:n.*51G>A
NM_020469.3:c.*51G>A	NP_065202.2:n.*51G>A