Canonical Allele Identifier: CA375684989

Gene: ABO

Linked Data

• gnomAD v4: 9-133255916-C-T
• COSMIC: COSM5410624
• MyVariant Identifiers: chr9:g.136131303C>T (hg19) ; chr9:g.133255916C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255916C>T , CM000671.2:g.133255916C>T	GRCh38
NC_000009.11:g.136131303C>T , CM000671.1:g.136131303C>T	GRCh37
NC_000009.10:g.135121124C>T	NCBI36
NG_006669.1:g.21752G>A
NG_006669.2:g.24300G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.844G>A
ENST00000647353.1:n.54-4764G>A
ENST00000679909.1:c.28+19246G>A	ENSP00000506089.1:n.28+19246G>A
ENST00000453660.3:n.826G>A
ENST00000538324.2:c.812G>A	ENSP00000483018.1:p.Gly271Glu
ENST00000611156.4:c.812G>A	ENSP00000483265.1:p.Gly271Glu
NM_020469.2:c.815G>A	NP_065202.2:p.Gly272Glu
NM_020469.3:c.815G>A	NP_065202.2:p.Gly272Glu