Canonical Allele Identifier: CA467783674

Gene: ABO

Linked Data

• dbSNP Id: rs1256227086
• MyVariant Identifiers: chr9:g.136132855G>A (hg19) ; chr9:g.133257468G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133257468G>A , CM000671.2:g.133257468G>A	GRCh38
NC_000009.11:g.136132855G>A , CM000671.1:g.136132855G>A	GRCh37
NC_000009.10:g.135122676G>A	NCBI36
NG_006669.1:g.20200C>T
NG_006669.2:g.22748C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.344C>T
ENST00000647353.1:n.54-6316C>T
ENST00000651471.1:n.329+574C>T
ENST00000679909.1:c.28+17694C>T	ENSP00000506089.1:n.28+17694C>T
ENST00000453660.3:n.326C>T
ENST00000538324.2:c.312C>T	ENSP00000483018.1:p.Leu104=
ENST00000611156.4:c.312C>T	ENSP00000483265.1:p.Leu104=
NM_020469.2:c.315C>T	NP_065202.2:p.Leu105=
NM_020469.3:c.315C>T	NP_065202.2:p.Leu105=