Canonical Allele Identifier: CA375686774

Gene: ABO

Linked Data

• dbSNP Id: rs782801741
• MyVariant Identifiers: chr9:g.136132913C>G (hg19) ; chr9:g.133257526C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133257526C>G , CM000671.2:g.133257526C>G	GRCh38
NC_000009.11:g.136132913C>G , CM000671.1:g.136132913C>G	GRCh37
NC_000009.10:g.135122734C>G	NCBI36
NG_006669.1:g.20141G>C
NG_006669.2:g.22689G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.286G>C
ENST00000647353.1:n.54-6374G>C
ENST00000651471.1:n.329+516G>C
ENST00000679909.1:c.28+17636G>C	ENSP00000506089.1:n.28+17636G>C
ENST00000453660.3:n.268G>C
ENST00000538324.2:c.256G>C	ENSP00000483018.1:p.Val86Leu
ENST00000611156.4:c.256G>C	ENSP00000483265.1:p.Val86Leu
NM_020469.2:c.256G>C	NP_065202.2:p.Val86Leu
NM_020469.3:c.256G>C	NP_065202.2:p.Val86Leu