Canonical Allele Identifier: CA375686113

Gene: ABO

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.594A>T
ENST00000647353.1:n.54-5014A>T
ENST00000651471.1:n.520A>T
ENST00000679909.1:c.28+18996A>T	ENSP00000506089.1:n.28+18996A>T
ENST00000453660.3:n.576A>T
ENST00000538324.2:c.562A>T	ENSP00000483018.1:p.Met188Leu
ENST00000611156.4:c.562A>T	ENSP00000483265.1:p.Met188Leu
NM_020469.2:c.565A>T	NP_065202.2:p.Met189Leu
NM_020469.3:c.565A>T	NP_065202.2:p.Met189Leu