Canonical Allele Identifier: CA5305816
Gene: ABO HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.133256205G>A
GRCh37 chr9:g.136131592G>A
gnomAD v2:
9:136131592 G / A
gnomAD v3:
9:133256205 G / A
gnomAD v4:
chr9-133256205-G-A
Joint Max Group AF 0.00001107 (NFE)
Genomes Max Group AF 0.00001972 (NFE)
Exomes Max Group AF 0.00000852 (NFE)
dbSNP:
7853989
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133256205G>A , CM000671.2:g.133256205G>A GRCh38
NC_000009.11:g.136131592G>A , CM000671.1:g.136131592G>A GRCh37
NC_000009.10:g.135121413G>A NCBI36
NG_006669.1:g.21463C>T
NG_006669.2:g.24011C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.555C>T
ENST00000647353.1:n.54-5053C>T
ENST00000651471.1:n.481C>T
ENST00000679909.1:c.28+18957C>T ENSP00000506089.1:n.28+18957C>T
ENST00000453660.3:n.537C>T
ENST00000538324.2:c.523C>T ENSP00000483018.1:p.Arg175Cys
ENST00000611156.4:c.523C>T ENSP00000483265.1:p.Arg175Cys
NM_020469.2:c.526C>T NP_065202.2:p.Arg176Cys
NM_020469.3:c.526C>T NP_065202.2:p.Arg176Cys
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