Canonical Allele Identifier: CA116567
Gene: ALDH4A1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.18877498G>A
GRCh37 chr1:g.19203992G>A
Revel Score:
ENST00000290597 0.690
ENST00000375341 (MANE Select) 0.690
ENST00000538839 0.690
ENST00000538309 0.690
gnomAD v2:
1:19203992 G / A
gnomAD v3:
1:18877498 G / A
gnomAD v4:
chr1-18877498-G-A
Joint Max Group AF 0.00016936 (NFE)
Genomes Max Group AF 0.0001587 (NFE)
Exomes Max Group AF 0.00016532 (NFE)
ClinVar RCV:
RCV000004210
ClinVar Variation:
4003
dbSNP:
137852937
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.18877498G>A , CM000663.2:g.18877498G>A GRCh38
NC_000001.10:g.19203992G>A , CM000663.1:g.19203992G>A GRCh37
NC_000001.9:g.19076579G>A NCBI36
NG_012283.1:g.30302C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375341.8:c.1055C>T MANE Select ENSP00000364490.3:p.Ser352Leu
ENST00000290597.9:c.1055C>T ENSP00000290597.5:p.Ser352Leu
ENST00000375341.7:c.1055C>T ENSP00000364490.3:p.Ser352Leu
ENST00000494072.3:c.2107C>T
ENST00000538309.5:c.875C>T ENSP00000442988.1:p.Ser292Leu
ENST00000538839.5:c.1055C>T ENSP00000446071.1:p.Ser352Leu
NM_001161504.1:c.875C>T NP_001154976.1:p.Ser292Leu
NM_003748.3:c.1055C>T NP_003739.2:p.Ser352Leu
NM_170726.2:c.1055C>T NP_733844.1:p.Ser352Leu
XM_011542352.1:c.1055C>T XP_011540654.1:p.Ser352Leu
XM_011542353.1:c.867C>T XP_011540655.1:p.Leu289=
XR_946786.1:n.924C>T
NM_001319218.1:c.1055C>T NP_001306147.1:p.Ser352Leu
XR_001737510.1:n.924C>T
NM_003748.4:c.1055C>T MANE Select NP_003739.2:p.Ser352Leu
NM_170726.3:c.1055C>T NP_733844.1:p.Ser352Leu
NM_001161504.2:c.875C>T NP_001154976.1:p.Ser292Leu
NM_001319218.2:c.1055C>T NP_001306147.1:p.Ser352Leu
Search 100 bp 5'
Search 100 bp 3'