Canonical Allele Identifier: CA5305803

Gene: ABO

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256166T>C , CM000671.2:g.133256166T>C	GRCh38
NC_000009.11:g.136131553T>C , CM000671.1:g.136131553T>C	GRCh37
NC_000009.10:g.135121374T>C	NCBI36
NG_006669.1:g.21502A>G
NG_006669.2:g.24050A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.594A>G
ENST00000647353.1:n.54-5014A>G
ENST00000651471.1:n.520A>G
ENST00000679909.1:c.28+18996A>G	ENSP00000506089.1:n.28+18996A>G
ENST00000453660.3:n.576A>G
ENST00000538324.2:c.562A>G	ENSP00000483018.1:p.Met188Val
ENST00000611156.4:c.562A>G	ENSP00000483265.1:p.Met188Val
NM_020469.2:c.565A>G	NP_065202.2:p.Met189Val
NM_020469.3:c.565A>G	NP_065202.2:p.Met189Val