Canonical Allele Identifier: CA5082376
Gene: ALDH1A1 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.72909651T>C
GRCh37 chr9:g.75524567T>C
Revel Score:
ENST00000297785 (MANE Select) 0.207
gnomAD v2:
9:75524567 T / C
gnomAD v3:
9:72909651 T / C
gnomAD v4:
chr9-72909651-T-C
Joint Max Group AF 0.00001746 (AFR)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00003983 (AFR)
ClinVar Allele:
2269638
ClinVar RCV:
RCV004124727
ClinVar Variation:
2275928
dbSNP:
756849804
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.72909651T>C , CM000671.2:g.72909651T>C GRCh38
NC_000009.11:g.75524567T>C , CM000671.1:g.75524567T>C GRCh37
NC_000009.10:g.74714387T>C NCBI36
NG_012249.1:g.48403A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000297785.8:c.1309A>G MANE Select ENSP00000297785.3:p.Ile437Val
ENST00000297785.7:c.1309A>G ENSP00000297785.3:p.Ile437Val
NM_000689.4:c.1309A>G NP_000680.2:p.Ile437Val
NM_000689.5:c.1309A>G MANE Select NP_000680.2:p.Ile437Val
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Search 100 bp 3'