Canonical Allele Identifier: CA13030802
Gene: ALDH1A1 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.72909868G>T
GRCh37 chr9:g.75524784G>T
gnomAD v2:
9:75524784 G / T
gnomAD v3:
9:72909868 G / T
gnomAD v4:
chr9-72909868-G-T
Joint Max Group AF 0.69134856 (AFR)
Genomes Max Group AF 0.68614279 (AFR)
Exomes Max Group AF 0.69644994 (AFR)
dbSNP:
63319
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.72909868G>T , CM000671.2:g.72909868G>T GRCh38
NC_000009.11:g.75524784G>T , CM000671.1:g.75524784G>T GRCh37
NC_000009.10:g.74714604G>T NCBI36
NG_012249.1:g.48186C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297785.8:c.1201-109C>A MANE Select ENSP00000297785.3:n.1201-109C>A
ENST00000297785.7:c.1201-109C>A ENSP00000297785.3:n.1201-109C>A
NM_000689.4:c.1201-109C>A NP_000680.2:n.1201-109C>A
NM_000689.5:c.1201-109C>A MANE Select NP_000680.2:n.1201-109C>A
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