Canonical Allele Identifier: CA375684139

Gene: ABO

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255807C>A , CM000671.2:g.133255807C>A	GRCh38
NC_000009.11:g.136131194C>A , CM000671.1:g.136131194C>A	GRCh37
NC_000009.10:g.135121015C>A	NCBI36
NG_006669.1:g.21861G>T
NG_006669.2:g.24409G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.953G>T
ENST00000647353.1:n.54-4655G>T
ENST00000679909.1:c.28+19355G>T	ENSP00000506089.1:n.28+19355G>T
ENST00000453660.3:n.935G>T
ENST00000538324.2:c.921G>T	ENSP00000483018.1:p.Lys307Asn
ENST00000611156.4:c.921G>T	ENSP00000483265.1:p.Lys307Asn
NM_020469.2:c.924G>T	NP_065202.2:p.Lys308Asn
NM_020469.3:c.924G>T	NP_065202.2:p.Lys308Asn