Canonical Allele Identifier: CA5305728
Gene: ABO HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.133255929C>T
GRCh37 chr9:g.136131316C>T
gnomAD v2:
9:136131316 C / T
gnomAD v3:
9:133255929 C / T
gnomAD v4:
chr9-133255929-C-T
Joint Max Group AF 0.02227109 (NFE)
Genomes Max Group AF 0.02172059 (NFE)
Exomes Max Group AF 0.02225425 (NFE)
dbSNP:
41302905
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255929C>T , CM000671.2:g.133255929C>T GRCh38
NC_000009.11:g.136131316C>T , CM000671.1:g.136131316C>T GRCh37
NC_000009.10:g.135121137C>T NCBI36
NG_006669.1:g.21739G>A
NG_006669.2:g.24287G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.831G>A
ENST00000647353.1:n.54-4777G>A
ENST00000679909.1:c.28+19233G>A ENSP00000506089.1:n.28+19233G>A
ENST00000453660.3:n.813G>A
ENST00000538324.2:c.799G>A ENSP00000483018.1:p.Gly267Arg
ENST00000611156.4:c.799G>A ENSP00000483265.1:p.Gly267Arg
NM_020469.2:c.802G>A NP_065202.2:p.Gly268Arg
NM_020469.3:c.802G>A NP_065202.2:p.Gly268Arg
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