Canonical Allele Identifier: CA375683674

Gene: ABO

Linked Data

• MyVariant Identifiers: chr9:g.136131137C>A (hg19) ; chr9:g.133255750C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255750C>A , CM000671.2:g.133255750C>A	GRCh38
NC_000009.11:g.136131137C>A , CM000671.1:g.136131137C>A	GRCh37
NC_000009.10:g.135120958C>A	NCBI36
NG_006669.1:g.21918G>T
NG_006669.2:g.24466G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.1010G>T
ENST00000647353.1:n.54-4598G>T
ENST00000679909.1:c.28+19412G>T	ENSP00000506089.1:n.28+19412G>T
ENST00000453660.3:n.992G>T
ENST00000538324.2:c.978G>T	ENSP00000483018.1:p.Gln326His
ENST00000611156.4:c.978G>T	ENSP00000483265.1:p.Gln326His
NM_020469.2:c.981G>T	NP_065202.2:p.Gln327His
NM_020469.3:c.981G>T	NP_065202.2:p.Gln327His