Canonical Allele Identifier: CA347466

Gene: ALDH18A1

Linked Data

• ClinVar Variation Id: 217117
• ClinVar RCV Id: RCV000200959 ; RCV000761744 ; RCV001095737 ; RCV003765292
• dbSNP Id: rs864321670
• MyVariant Identifiers: chr10:g.97392769C>T (hg19) ; chr10:g.95633012C>T (hg38)
• PubMed: PMID:8779323 ; PMID:26026163 ; PMID:26297558

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.95633012C>T , CM000672.2:g.95633012C>T	GRCh38
NC_000010.10:g.97392769C>T , CM000672.1:g.97392769C>T	GRCh37
NC_000010.9:g.97382759C>T	NCBI36
NG_012258.1:g.28799G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371224.7:c.755G>A MANE Select	ENSP00000360268.2:p.Arg252Gln
ENST00000371221.3:c.749G>A	ENSP00000360265.3:p.Arg250Gln
ENST00000371224.6:c.755G>A	ENSP00000360268.2:p.Arg252Gln
NM_001017423.1:c.749G>A	NP_001017423.1:p.Arg250Gln
NM_002860.3:c.755G>A	NP_002851.2:p.Arg252Gln
XM_006717933.1:c.755G>A	XP_006717996.1:p.Arg252Gln
XM_011540001.1:c.422G>A	XP_011538303.1:p.Arg141Gln
NM_001323412.1:c.422G>A	NP_001310341.1:p.Arg141Gln
NM_001323413.1:c.755G>A	NP_001310342.1:p.Arg252Gln
NM_001323414.1:c.755G>A	NP_001310343.1:p.Arg252Gln
NM_001323415.1:c.749G>A	NP_001310344.1:p.Arg250Gln
NM_001323416.1:c.422G>A	NP_001310345.1:p.Arg141Gln
NM_001323417.1:c.650G>A	NP_001310346.1:p.Arg217Gln
NM_001323418.1:c.416G>A	NP_001310347.1:p.Arg139Gln
NM_001323419.1:c.119G>A	NP_001310348.1:p.Arg40Gln
XM_024448094.1:c.755G>A	XP_024303862.1:p.Arg252Gln
XM_024448095.1:c.755G>A	XP_024303863.1:p.Arg252Gln
XM_024448096.1:c.749G>A	XP_024303864.1:p.Arg250Gln
XM_024448097.1:c.422G>A	XP_024303865.1:p.Arg141Gln
NM_002860.4:c.755G>A MANE Select	NP_002851.2:p.Arg252Gln
NM_001017423.2:c.749G>A	NP_001017423.1:p.Arg250Gln
NM_001323412.2:c.422G>A	NP_001310341.1:p.Arg141Gln
NM_001323413.2:c.755G>A	NP_001310342.1:p.Arg252Gln
NM_001323414.2:c.755G>A	NP_001310343.1:p.Arg252Gln
NM_001323415.2:c.749G>A	NP_001310344.1:p.Arg250Gln
NM_001323416.2:c.422G>A	NP_001310345.1:p.Arg141Gln
NM_001323417.2:c.650G>A	NP_001310346.1:p.Arg217Gln
NM_001323418.2:c.416G>A	NP_001310347.1:p.Arg139Gln
NM_001323419.2:c.119G>A	NP_001310348.1:p.Arg40Gln