Canonical Allele Identifier: CA7760224
Gene: ALDH1A3 HGNC NCBI
ALDH1A3-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.100898147G>C
GRCh37 chr15:g.101438352G>C
Revel Score:
ENST00000329841 (MANE Select) 0.885
ENST00000346623 0.885
gnomAD v2:
15:101438352 G / C
gnomAD v3:
15:100898147 G / C
gnomAD v4:
chr15-100898147-G-C
Joint Max Group AF 0.00001454 (NFE)
Exomes Max Group AF 0.0000146 (NFE)
ClinVar RCV:
RCV003229641
ClinVar Variation:
1802998
dbSNP:
547918064
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.100898147G>C , CM000677.2:g.100898147G>C GRCh38
NC_000015.9:g.101438352G>C , CM000677.1:g.101438352G>C GRCh37
NC_000015.8:g.99255875G>C NCBI36
NG_012254.1:g.23344G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000329841.10:c.845G>C (ALDH1A3) MANE Select ENSP00000332256.5:p.Gly282Ala
ENST00000329841.9:c.845G>C (ALDH1A3) ENSP00000332256.5:p.Gly282Ala
ENST00000346623.6:c.524G>C (ALDH1A3) ENSP00000343294.6:p.Gly175Ala
ENST00000558869.1:n.88G>C (ALDH1A3)
NM_000693.3:c.845G>C (ALDH1A3) NP_000684.2:p.Gly282Ala
NM_001293815.1:c.524G>C (ALDH1A3) NP_001280744.1:p.Gly175Ala
NR_135827.1:n.481-2081C>G (ALDH1A3-AS1)
NM_000693.4:c.845G>C (ALDH1A3) MANE Select NP_000684.2:p.Gly282Ala
NM_001293815.2:c.524G>C (ALDH1A3) NP_001280744.1:p.Gly175Ala
Search 100 bp 5'
Search 100 bp 3'