Canonical Allele Identifier: CA467852758

Gene: ABO

Linked Data

• dbSNP Id: rs1336612588
• MyVariant Identifiers: chr9:g.136131110C>G (hg19) ; chr9:g.133255723C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255723C>G , CM000671.2:g.133255723C>G	GRCh38
NC_000009.11:g.136131110C>G , CM000671.1:g.136131110C>G	GRCh37
NC_000009.10:g.135120931C>G	NCBI36
NG_006669.1:g.21945G>C
NG_006669.2:g.24493G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.1037G>C
ENST00000647353.1:n.54-4571G>C
ENST00000679909.1:c.28+19439G>C	ENSP00000506089.1:n.28+19439G>C
ENST00000453660.3:n.1019G>C
ENST00000538324.2:c.1005G>C	ENSP00000483018.1:p.Leu335=
ENST00000611156.4:c.1005G>C	ENSP00000483265.1:p.Leu335=
NM_020469.2:c.1008G>C	NP_065202.2:p.Leu336=
NM_020469.3:c.1008G>C	NP_065202.2:p.Leu336=