Canonical Allele Identifier: CA375686359

Gene: ABO

Linked Data

• dbSNP Id: rs2118943507
• gnomAD v4: 9-133256291-A-G
• MyVariant Identifiers: chr9:g.136131678A>G (hg19) ; chr9:g.133256291A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256291A>G , CM000671.2:g.133256291A>G	GRCh38
NC_000009.11:g.136131678A>G , CM000671.1:g.136131678A>G	GRCh37
NC_000009.10:g.135121499A>G	NCBI36
NG_006669.1:g.21377T>C
NG_006669.2:g.23925T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.469T>C
ENST00000647353.1:n.54-5139T>C
ENST00000651471.1:n.395T>C
ENST00000679909.1:c.28+18871T>C	ENSP00000506089.1:n.28+18871T>C
ENST00000453660.3:n.451T>C
ENST00000538324.2:c.437T>C	ENSP00000483018.1:p.Val146Ala
ENST00000611156.4:c.437T>C	ENSP00000483265.1:p.Val146Ala
NM_020469.2:c.440T>C	NP_065202.2:p.Val147Ala
NM_020469.3:c.440T>C	NP_065202.2:p.Val147Ala