Canonical Allele Identifier: CA375683947

Gene: ABO

Linked Data

• MyVariant Identifiers: chr9:g.136131172T>C (hg19) ; chr9:g.133255785T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255785T>C , CM000671.2:g.133255785T>C	GRCh38
NC_000009.11:g.136131172T>C , CM000671.1:g.136131172T>C	GRCh37
NC_000009.10:g.135120993T>C	NCBI36
NG_006669.1:g.21883A>G
NG_006669.2:g.24431A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.975A>G
ENST00000647353.1:n.54-4633A>G
ENST00000679909.1:c.28+19377A>G	ENSP00000506089.1:n.28+19377A>G
ENST00000453660.3:n.957A>G
ENST00000538324.2:c.943A>G	ENSP00000483018.1:p.Thr315Ala
ENST00000611156.4:c.943A>G	ENSP00000483265.1:p.Thr315Ala
NM_020469.2:c.946A>G	NP_065202.2:p.Thr316Ala
NM_020469.3:c.946A>G	NP_065202.2:p.Thr316Ala