Canonical Allele Identifier: CA375686870

Gene: ABO

Linked Data

• gnomAD v4: 9-133258124-T-C
• MyVariant Identifiers: chr9:g.136133514T>C (hg19) ; chr9:g.133258124T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133258124T>C , CM000671.2:g.133258124T>C	GRCh38
NC_000009.11:g.136133514T>C , CM000671.1:g.136133514T>C	GRCh37
NC_000009.10:g.135123335T>C	NCBI36
NG_006669.1:g.19540A>G
NG_006669.2:g.22091A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.242A>G
ENST00000647353.1:n.54-6972A>G
ENST00000651471.1:n.247A>G
ENST00000679909.1:c.28+17038A>G	ENSP00000506089.1:n.28+17038A>G
ENST00000453660.3:n.224A>G
ENST00000538324.2:c.212A>G	ENSP00000483018.1:p.Tyr71Cys
ENST00000611156.4:c.212A>G	ENSP00000483265.1:p.Tyr71Cys
NM_020469.2:c.212A>G	NP_065202.2:p.Tyr71Cys
NM_020469.3:c.212A>G	NP_065202.2:p.Tyr71Cys