Canonical Allele Identifier: CA200765576

Gene: ABO

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256277A>G , CM000671.2:g.133256277A>G	GRCh38
NC_000009.11:g.136131664A>G , CM000671.1:g.136131664A>G	GRCh37
NC_000009.10:g.135121485A>G	NCBI36
NG_006669.1:g.21391T>C
NG_006669.2:g.23939T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.483T>C
ENST00000647353.1:n.54-5125T>C
ENST00000651471.1:n.409T>C
ENST00000679909.1:c.28+18885T>C	ENSP00000506089.1:n.28+18885T>C
ENST00000453660.3:n.465T>C
ENST00000538324.2:c.451T>C	ENSP00000483018.1:p.Phe151Leu
ENST00000611156.4:c.451T>C	ENSP00000483265.1:p.Phe151Leu
NM_020469.2:c.454T>C	NP_065202.2:p.Phe152Leu
NM_020469.3:c.454T>C	NP_065202.2:p.Phe152Leu