Canonical Allele Identifier: CA338769998

Gene: ALDH4A1

Linked Data

• MyVariant Identifiers: chr1:g.19229013A>C (hg19) ; chr1:g.18902519A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.18902519A>C , CM000663.2:g.18902519A>C	GRCh38
NC_000001.10:g.19229013A>C , CM000663.1:g.19229013A>C	GRCh37
NC_000001.9:g.19101600A>C	NCBI36
NG_012283.1:g.5281T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375341.8:c.5T>G MANE Select	ENSP00000364490.3:p.Leu2Arg
ENST00000290597.9:c.5T>G	ENSP00000290597.5:p.Leu2Arg
ENST00000375341.7:c.5T>G	ENSP00000364490.3:p.Leu2Arg
ENST00000432718.1:c.5T>G	ENSP00000393209.1:p.Leu2Arg
ENST00000494072.3:c.911+6020T>G
ENST00000538839.5:c.5T>G	ENSP00000446071.1:p.Leu2Arg
NM_003748.3:c.5T>G	NP_003739.2:p.Leu2Arg
NM_170726.2:c.5T>G	NP_733844.1:p.Leu2Arg
XM_011542352.1:c.5T>G	XP_011540654.1:p.Leu2Arg
XM_011542353.1:c.5T>G	XP_011540655.1:p.Leu2Arg
XR_946786.1:n.62T>G
NM_001319218.1:c.5T>G	NP_001306147.1:p.Leu2Arg
XR_001737510.1:n.62T>G
NM_003748.4:c.5T>G MANE Select	NP_003739.2:p.Leu2Arg
NM_170726.3:c.5T>G	NP_733844.1:p.Leu2Arg
NM_001319218.2:c.5T>G	NP_001306147.1:p.Leu2Arg