Canonical Allele Identifier: CA5305900

Gene: ABO

Linked Data

• dbSNP Id: rs540538969
• ExAC: 9:136132845 A / G
• gnomAD v2: 9-136132845-A-G
• gnomAD v3: 9-133257458-A-G
• gnomAD v4: 9-133257458-A-G
• MyVariant Identifiers: chr9:g.136132845A>G (hg19) ; chr9:g.133257458A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133257458A>G , CM000671.2:g.133257458A>G	GRCh38
NC_000009.11:g.136132845A>G , CM000671.1:g.136132845A>G	GRCh37
NC_000009.10:g.135122666A>G	NCBI36
NG_006669.1:g.20210T>C
NG_006669.2:g.22758T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.354T>C
ENST00000647353.1:n.54-6306T>C
ENST00000651471.1:n.329+584T>C
ENST00000679909.1:c.28+17704T>C	ENSP00000506089.1:n.28+17704T>C
ENST00000453660.3:n.336T>C
ENST00000538324.2:c.322T>C	ENSP00000483018.1:p.Phe108Leu
ENST00000611156.4:c.322T>C	ENSP00000483265.1:p.Phe108Leu
NM_020469.2:c.325T>C	NP_065202.2:p.Phe109Leu
NM_020469.3:c.325T>C	NP_065202.2:p.Phe109Leu