Canonical Allele Identifier: CA646818
Gene: ALDH4A1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.18872954G>T
GRCh37 chr1:g.19199448G>T
Revel Score:
ENST00000290597 0.639
ENST00000375341 (MANE Select) 0.639
ENST00000538839 0.639
ENST00000538309 0.639
gnomAD v2:
1:19199448 G / T
gnomAD v3:
1:18872954 G / T
gnomAD v4:
chr1-18872954-G-T
Joint Max Group AF 0.02634539 (NFE)
Genomes Max Group AF 0.02421845 (NFE)
Exomes Max Group AF 0.02642185 (NFE)
ClinVar RCV:
RCV000552519
ClinVar Variation:
471329
dbSNP:
61757683
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.18872954G>T , CM000663.2:g.18872954G>T GRCh38
NC_000001.10:g.19199448G>T , CM000663.1:g.19199448G>T GRCh37
NC_000001.9:g.19072035G>T NCBI36
NG_012283.1:g.34846C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375341.8:c.1583C>A MANE Select ENSP00000364490.3:p.Thr528Asn
ENST00000290597.9:c.1583C>A ENSP00000290597.5:p.Thr528Asn
ENST00000375341.7:c.1583C>A ENSP00000364490.3:p.Thr528Asn
ENST00000494072.3:c.2631+1509C>A
ENST00000538309.5:c.1403C>A ENSP00000442988.1:p.Thr468Asn
ENST00000538839.5:c.1430C>A ENSP00000446071.1:p.Thr477Asn
NM_001161504.1:c.1403C>A NP_001154976.1:p.Thr468Asn
NM_003748.3:c.1583C>A NP_003739.2:p.Thr528Asn
NM_170726.2:c.1583C>A NP_733844.1:p.Thr528Asn
XM_011542352.1:c.1430C>A XP_011540654.1:p.Thr477Asn
XR_946786.1:n.1452C>A
NM_001319218.1:c.1430C>A NP_001306147.1:p.Thr477Asn
XR_001737510.1:n.1299C>A
NM_003748.4:c.1583C>A MANE Select NP_003739.2:p.Thr528Asn
NM_170726.3:c.1583C>A NP_733844.1:p.Thr528Asn
NM_001161504.2:c.1403C>A NP_001154976.1:p.Thr468Asn
NM_001319218.2:c.1430C>A NP_001306147.1:p.Thr477Asn
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