Canonical Allele Identifier: CA040524
Gene: ABO HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.133255928C>G
GRCh37 chr9:g.136131315C>G
gnomAD v2:
9:136131315 C / G
gnomAD v3:
9:133255928 C / G
gnomAD v4:
chr9-133255928-C-G
Joint Max Group AF 0.25648099 (SAS)
Genomes Max Group AF 0.24384225 (SAS)
Exomes Max Group AF 0.25660051 (SAS)
ClinVar RCV:
RCV001003444
ClinVar Variation:
242740
dbSNP:
8176747
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255928C>G , CM000671.2:g.133255928C>G GRCh38
NC_000009.11:g.136131315C>G , CM000671.1:g.136131315C>G GRCh37
NC_000009.10:g.135121136C>G NCBI36
NG_006669.1:g.21740G>C
NG_006669.2:g.24288G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.832G>C
ENST00000647353.1:n.54-4776G>C
ENST00000679909.1:c.28+19234G>C ENSP00000506089.1:n.28+19234G>C
ENST00000453660.3:n.814G>C
ENST00000538324.2:c.800G>C ENSP00000483018.1:p.Gly267Ala
ENST00000611156.4:c.800G>C ENSP00000483265.1:p.Gly267Ala
NM_020469.2:c.803G>C NP_065202.2:p.Gly268Ala
NM_020469.3:c.803G>C NP_065202.2:p.Gly268Ala
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