Canonical Allele Identifier: CA040427
Gene: ABO HGNC NCBI
COSMIC:
COSM3982763
dbSNP:
1053878
gnomAD v2:
9:136131651 G / A
gnomAD v3:
9:133256264 G / A
gnomAD v4:
chr9-133256264-G-A
Joint Max Group AF 0.21653615 (AFR)
Genomes Max Group AF 0.21387895 (AFR)
Exomes Max Group AF 0.21724727 (AFR)
MyVariant.info:
GRCh38 chr9:g.133256264G>A
GRCh37 chr9:g.136131651G>A
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133256264G>A , CM000671.2:g.133256264G>A GRCh38
NC_000009.11:g.136131651G>A , CM000671.1:g.136131651G>A GRCh37
NC_000009.10:g.135121472G>A NCBI36
NG_006669.1:g.21404C>T
NG_006669.2:g.23952C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.496C>T
ENST00000647353.1:n.54-5112C>T
ENST00000651471.1:n.422C>T
ENST00000679909.1:c.28+18898C>T ENSP00000506089.1:n.28+18898C>T
ENST00000453660.3:n.478C>T
ENST00000538324.2:c.464C>T ENSP00000483018.1:p.Pro155Leu
ENST00000611156.4:c.464C>T ENSP00000483265.1:p.Pro155Leu
NM_020469.2:c.467C>T NP_065202.2:p.Pro156Leu
NM_020469.3:c.467C>T NP_065202.2:p.Pro156Leu
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