Canonical Allele Identifier: CA375683363

Gene: ABO

Linked Data

• gnomAD v4: 9-133255701-C-T
• MyVariant Identifiers: chr9:g.136131088C>T (hg19) ; chr9:g.133255701C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255701C>T , CM000671.2:g.133255701C>T	GRCh38
NC_000009.11:g.136131088C>T , CM000671.1:g.136131088C>T	GRCh37
NC_000009.10:g.135120909C>T	NCBI36
NG_006669.1:g.21967G>A
NG_006669.2:g.24515G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.1059G>A
ENST00000647353.1:n.54-4549G>A
ENST00000679909.1:c.28+19461G>A	ENSP00000506089.1:n.28+19461G>A
ENST00000453660.3:n.1041G>A
ENST00000538324.2:c.1027G>A	ENSP00000483018.1:p.Val343Met
ENST00000611156.4:c.1027G>A	ENSP00000483265.1:p.Val343Met
NM_020469.2:c.1030G>A	NP_065202.2:p.Val344Met
NM_020469.3:c.1030G>A	NP_065202.2:p.Val344Met