Canonical Allele Identifier: CA5620463

Gene: ALDH18A1

Linked Data

• ClinVar Variation Id: 301772
• ClinVar RCV Id: RCV000376066 ; RCV003765782
• dbSNP Id: rs772389382
• ExAC: 10:97387350 A / T
• gnomAD v2: 10-97387350-A-T
• gnomAD v4: 10-95627593-A-T
• MyVariant Identifiers: chr10:g.97387350A>T (hg19) ; chr10:g.95627593A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.95627593A>T , CM000672.2:g.95627593A>T	GRCh38
NC_000010.10:g.97387350A>T , CM000672.1:g.97387350A>T	GRCh37
NC_000010.9:g.97377340A>T	NCBI36
NG_012258.1:g.34218T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371224.7:c.934-7T>A MANE Select	ENSP00000360268.2:n.934-7T>A
ENST00000371221.3:c.928-7T>A	ENSP00000360265.3:n.928-7T>A
ENST00000371224.6:c.934-7T>A	ENSP00000360268.2:n.934-7T>A
ENST00000489386.1:n.299-7T>A
NM_001017423.1:c.928-7T>A	NP_001017423.1:n.928-7T>A
NM_002860.3:c.934-7T>A	NP_002851.2:n.934-7T>A
XM_006717933.1:c.934-7T>A	XP_006717996.1:n.934-7T>A
XM_011540001.1:c.601-7T>A	XP_011538303.1:n.601-7T>A
NM_001323412.1:c.601-7T>A	NP_001310341.1:n.601-7T>A
NM_001323413.1:c.934-7T>A	NP_001310342.1:n.934-7T>A
NM_001323414.1:c.934-7T>A	NP_001310343.1:n.934-7T>A
NM_001323415.1:c.928-7T>A	NP_001310344.1:n.928-7T>A
NM_001323416.1:c.601-7T>A	NP_001310345.1:n.601-7T>A
NM_001323417.1:c.829-7T>A	NP_001310346.1:n.829-7T>A
NM_001323418.1:c.595-7T>A	NP_001310347.1:n.595-7T>A
NM_001323419.1:c.298-7T>A	NP_001310348.1:n.298-7T>A
XM_024448094.1:c.934-7T>A	XP_024303862.1:n.934-7T>A
XM_024448095.1:c.934-7T>A	XP_024303863.1:n.934-7T>A
XM_024448096.1:c.928-7T>A	XP_024303864.1:n.928-7T>A
XM_024448097.1:c.601-7T>A	XP_024303865.1:n.601-7T>A
NM_002860.4:c.934-7T>A MANE Select	NP_002851.2:n.934-7T>A
NM_001017423.2:c.928-7T>A	NP_001017423.1:n.928-7T>A
NM_001323412.2:c.601-7T>A	NP_001310341.1:n.601-7T>A
NM_001323413.2:c.934-7T>A	NP_001310342.1:n.934-7T>A
NM_001323414.2:c.934-7T>A	NP_001310343.1:n.934-7T>A
NM_001323415.2:c.928-7T>A	NP_001310344.1:n.928-7T>A
NM_001323416.2:c.601-7T>A	NP_001310345.1:n.601-7T>A
NM_001323417.2:c.829-7T>A	NP_001310346.1:n.829-7T>A
NM_001323418.2:c.595-7T>A	NP_001310347.1:n.595-7T>A
NM_001323419.2:c.298-7T>A	NP_001310348.1:n.298-7T>A