Canonical Allele Identifier: CA646803

Gene: ALDH4A1

Linked Data

• ClinVar Variation Id: 294364
• ClinVar RCV Id: RCV000526241
• dbSNP Id: rs72953172
• ExAC: 1:19199400 G / A
• gnomAD v2: 1-19199400-G-A
• gnomAD v3: 1-18872906-G-A
• gnomAD v4: 1-18872906-G-A
• MyVariant Identifiers: chr1:g.19199400G>A (hg19) ; chr1:g.18872906G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.18872906G>A , CM000663.2:g.18872906G>A	GRCh38
NC_000001.10:g.19199400G>A , CM000663.1:g.19199400G>A	GRCh37
NC_000001.9:g.19071987G>A	NCBI36
NG_012283.1:g.34894C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375341.8:c.1631C>T MANE Select	ENSP00000364490.3:p.Pro544Leu
ENST00000290597.9:c.1631C>T	ENSP00000290597.5:p.Pro544Leu
ENST00000375341.7:c.1631C>T	ENSP00000364490.3:p.Pro544Leu
ENST00000494072.3:c.2631+1557C>T
ENST00000538309.5:c.1451C>T	ENSP00000442988.1:p.Pro484Leu
ENST00000538839.5:c.1478C>T	ENSP00000446071.1:p.Pro493Leu
NM_001161504.1:c.1451C>T	NP_001154976.1:p.Pro484Leu
NM_003748.3:c.1631C>T	NP_003739.2:p.Pro544Leu
NM_170726.2:c.1631C>T	NP_733844.1:p.Pro544Leu
XM_011542352.1:c.1478C>T	XP_011540654.1:p.Pro493Leu
XR_946786.1:n.1500C>T
NM_001319218.1:c.1478C>T	NP_001306147.1:p.Pro493Leu
XR_001737510.1:n.1347C>T
NM_003748.4:c.1631C>T MANE Select	NP_003739.2:p.Pro544Leu
NM_170726.3:c.1631C>T	NP_733844.1:p.Pro544Leu
NM_001161504.2:c.1451C>T	NP_001154976.1:p.Pro484Leu
NM_001319218.2:c.1478C>T	NP_001306147.1:p.Pro493Leu