Canonical Allele Identifier: CA375683760

Gene: ABO

Linked Data

• dbSNP Id: rs2118940134
• MyVariant Identifiers: chr9:g.136131147A>G (hg19) ; chr9:g.133255760A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255760A>G , CM000671.2:g.133255760A>G	GRCh38
NC_000009.11:g.136131147A>G , CM000671.1:g.136131147A>G	GRCh37
NC_000009.10:g.135120968A>G	NCBI36
NG_006669.1:g.21908T>C
NG_006669.2:g.24456T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.1000T>C
ENST00000647353.1:n.54-4608T>C
ENST00000679909.1:c.28+19402T>C	ENSP00000506089.1:n.28+19402T>C
ENST00000453660.3:n.982T>C
ENST00000538324.2:c.968T>C	ENSP00000483018.1:p.Leu323Ser
ENST00000611156.4:c.968T>C	ENSP00000483265.1:p.Leu323Ser
NM_020469.2:c.971T>C	NP_065202.2:p.Leu324Ser
NM_020469.3:c.971T>C	NP_065202.2:p.Leu324Ser