Canonical Allele Identifier: CA375686571

Gene: ABO

Linked Data

• MyVariant Identifiers: chr9:g.136132817A>G (hg19) ; chr9:g.133257430A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133257430A>G , CM000671.2:g.133257430A>G	GRCh38
NC_000009.11:g.136132817A>G , CM000671.1:g.136132817A>G	GRCh37
NC_000009.10:g.135122638A>G	NCBI36
NG_006669.1:g.20238T>C
NG_006669.2:g.22786T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.382T>C
ENST00000647353.1:n.54-6278T>C
ENST00000651471.1:n.329+612T>C
ENST00000679909.1:c.28+17732T>C	ENSP00000506089.1:n.28+17732T>C
ENST00000453660.3:n.364T>C
ENST00000538324.2:c.350T>C	ENSP00000483018.1:p.Leu117Ser
ENST00000611156.4:c.350T>C	ENSP00000483265.1:p.Leu117Ser
NM_020469.2:c.353T>C	NP_065202.2:p.Leu118Ser
NM_020469.3:c.353T>C	NP_065202.2:p.Leu118Ser