Canonical Allele Identifier: CA232584
Gene: ALDH1A3 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.100887578G>A
GRCh37 chr15:g.101427783G>A
Revel Score:
ENST00000329841 (MANE Select) 0.707
ENST00000415812 0.707
ENST00000346623 0.707
gnomAD v3:
15:100887578 G / A
gnomAD v4:
chr15-100887578-G-A
Joint Max Group AF 0.00000249 (NFE)
Exomes Max Group AF 0.00000196 (NFE)
ClinVar RCV:
RCV000128477
ClinVar Variation:
91908
dbSNP:
386834230
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.100887578G>A , CM000677.2:g.100887578G>A GRCh38
NC_000015.9:g.101427783G>A , CM000677.1:g.101427783G>A GRCh37
NC_000015.8:g.99245306G>A NCBI36
NG_012254.1:g.12775G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000329841.10:c.211G>A MANE Select ENSP00000332256.5:p.Val71Met
ENST00000329841.9:c.211G>A ENSP00000332256.5:p.Val71Met
ENST00000346623.6:c.211G>A ENSP00000343294.6:p.Val71Met
ENST00000558033.5:c.211G>A ENSP00000454107.1:p.Val71Met
ENST00000560555.1:n.271G>A
ENST00000561338.5:c.127G>A ENSP00000452789.1:p.Val43Met
NM_000693.3:c.211G>A NP_000684.2:p.Val71Met
NM_001293815.1:c.211G>A NP_001280744.1:p.Val71Met
NM_000693.4:c.211G>A MANE Select NP_000684.2:p.Val71Met
NM_001293815.2:c.211G>A NP_001280744.1:p.Val71Met
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