Canonical Allele Identifier: CA375684704

Gene: ABO

Linked Data

• MyVariant Identifiers: chr9:g.136131258G>A (hg19) ; chr9:g.133255871G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255871G>A , CM000671.2:g.133255871G>A	GRCh38
NC_000009.11:g.136131258G>A , CM000671.1:g.136131258G>A	GRCh37
NC_000009.10:g.135121079G>A	NCBI36
NG_006669.1:g.21797C>T
NG_006669.2:g.24345C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.889C>T
ENST00000647353.1:n.54-4719C>T
ENST00000679909.1:c.28+19291C>T	ENSP00000506089.1:n.28+19291C>T
ENST00000453660.3:n.871C>T
ENST00000538324.2:c.857C>T	ENSP00000483018.1:p.Ala286Val
ENST00000611156.4:c.857C>T	ENSP00000483265.1:p.Ala286Val
NM_020469.2:c.860C>T	NP_065202.2:p.Ala287Val
NM_020469.3:c.860C>T	NP_065202.2:p.Ala287Val