Canonical Allele Identifier: CA18792412

Gene: ALDH4A1

Linked Data

• dbSNP Id: rs974359006
• gnomAD v2: 1-19228474-G-A
• gnomAD v3: 1-18901980-G-A
• gnomAD v4: 1-18901980-G-A
• MyVariant Identifiers: chr1:g.19228474G>A (hg19) ; chr1:g.18901980G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.18901980G>A , CM000663.2:g.18901980G>A	GRCh38
NC_000001.10:g.19228474G>A , CM000663.1:g.19228474G>A	GRCh37
NC_000001.9:g.19101061G>A	NCBI36
NG_012283.1:g.5820C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375341.8:c.62+482C>T MANE Select	ENSP00000364490.3:n.62+482C>T
ENST00000290597.9:c.62+482C>T	ENSP00000290597.5:n.62+482C>T
ENST00000375341.7:c.62+482C>T	ENSP00000364490.3:n.62+482C>T
ENST00000432718.1:c.62+482C>T	ENSP00000393209.1:n.62+482C>T
ENST00000494072.3:c.911+6559C>T
ENST00000538839.5:c.62+482C>T	ENSP00000446071.1:n.62+482C>T
NM_003748.3:c.62+482C>T	NP_003739.2:n.62+482C>T
NM_170726.2:c.62+482C>T	NP_733844.1:n.62+482C>T
XM_011542352.1:c.62+482C>T	XP_011540654.1:n.62+482C>T
XM_011542353.1:c.62+482C>T	XP_011540655.1:n.62+482C>T
XR_946786.1:n.119+482C>T
NM_001319218.1:c.62+482C>T	NP_001306147.1:n.62+482C>T
XR_001737510.1:n.119+482C>T
NM_003748.4:c.62+482C>T MANE Select	NP_003739.2:n.62+482C>T
NM_170726.3:c.62+482C>T	NP_733844.1:n.62+482C>T
NM_001319218.2:c.62+482C>T	NP_001306147.1:n.62+482C>T