Canonical Allele Identifier: CA18792430

Gene: ALDH4A1

Linked Data

• dbSNP Id: rs145305575
• gnomAD v2: 1-19228505-C-G
• gnomAD v3: 1-18902011-C-G
• gnomAD v4: 1-18902011-C-G
• MyVariant Identifiers: chr1:g.19228505C>G (hg19) ; chr1:g.18902011C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.18902011C>G , CM000663.2:g.18902011C>G	GRCh38
NC_000001.10:g.19228505C>G , CM000663.1:g.19228505C>G	GRCh37
NC_000001.9:g.19101092C>G	NCBI36
NG_012283.1:g.5789G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375341.8:c.62+451G>C MANE Select	ENSP00000364490.3:n.62+451G>C
ENST00000290597.9:c.62+451G>C	ENSP00000290597.5:n.62+451G>C
ENST00000375341.7:c.62+451G>C	ENSP00000364490.3:n.62+451G>C
ENST00000432718.1:c.62+451G>C	ENSP00000393209.1:n.62+451G>C
ENST00000494072.3:c.911+6528G>C
ENST00000538839.5:c.62+451G>C	ENSP00000446071.1:n.62+451G>C
NM_003748.3:c.62+451G>C	NP_003739.2:n.62+451G>C
NM_170726.2:c.62+451G>C	NP_733844.1:n.62+451G>C
XM_011542352.1:c.62+451G>C	XP_011540654.1:n.62+451G>C
XM_011542353.1:c.62+451G>C	XP_011540655.1:n.62+451G>C
XR_946786.1:n.119+451G>C
NM_001319218.1:c.62+451G>C	NP_001306147.1:n.62+451G>C
XR_001737510.1:n.119+451G>C
NM_003748.4:c.62+451G>C MANE Select	NP_003739.2:n.62+451G>C
NM_170726.3:c.62+451G>C	NP_733844.1:n.62+451G>C
NM_001319218.2:c.62+451G>C	NP_001306147.1:n.62+451G>C