Canonical Allele Identifier: CA5620116

Gene: ALDH18A1

Linked Data

• ClinVar Variation Id: 258825
• ClinVar RCV Id: RCV001548994 ; RCV001548995 ; RCV001548996 ; RCV003765522
• dbSNP Id: rs10882640
• ExAC: 10:97369939 C / T
• gnomAD v2: 10-97369939-C-T
• gnomAD v3: 10-95610182-C-T
• gnomAD v4: 10-95610182-C-T
• MyVariant Identifiers: chr10:g.97369939C>T (hg19) ; chr10:g.97369939_97369941delinsTAG (hg19) ; chr10:g.95610182C>T (hg38) ; chr10:g.95610182_95610184delinsTAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.95610182C>T , CM000672.2:g.95610182C>T	GRCh38
NC_000010.10:g.97369939C>T , CM000672.1:g.97369939C>T	GRCh37
NC_000010.9:g.97359929C>T	NCBI36
NG_012258.1:g.51629G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000371224.7:c.2206+15G>A MANE Select	ENSP00000360268.2:n.2206+15G>A
ENST00000371221.3:c.2200+15G>A	ENSP00000360265.3:n.2200+15G>A
ENST00000371224.6:c.2206+15G>A	ENSP00000360268.2:n.2206+15G>A
NM_001017423.1:c.2200+15G>A	NP_001017423.1:n.2200+15G>A
NM_002860.3:c.2206+15G>A	NP_002851.2:n.2206+15G>A
XM_006717933.1:c.2206+15G>A	XP_006717996.1:n.2206+15G>A
XM_011540001.1:c.1873+15G>A	XP_011538303.1:n.1873+15G>A
NM_001323412.1:c.1873+15G>A	NP_001310341.1:n.1873+15G>A
NM_001323413.1:c.2206+15G>A	NP_001310342.1:n.2206+15G>A
NM_001323414.1:c.2206+15G>A	NP_001310343.1:n.2206+15G>A
NM_001323415.1:c.2200+15G>A	NP_001310344.1:n.2200+15G>A
NM_001323416.1:c.1873+15G>A	NP_001310345.1:n.1873+15G>A
NM_001323417.1:c.2101+15G>A	NP_001310346.1:n.2101+15G>A
NM_001323418.1:c.1867+15G>A	NP_001310347.1:n.1867+15G>A
NM_001323419.1:c.1570+15G>A	NP_001310348.1:n.1570+15G>A
XM_024448094.1:c.2308+15G>A	XP_024303862.1:n.2308+15G>A
XM_024448095.1:c.2308+15G>A	XP_024303863.1:n.2308+15G>A
XM_024448096.1:c.2302+15G>A	XP_024303864.1:n.2302+15G>A
XM_024448097.1:c.1975+15G>A	XP_024303865.1:n.1975+15G>A
NM_002860.4:c.2206+15G>A MANE Select	NP_002851.2:n.2206+15G>A
NM_001017423.2:c.2200+15G>A	NP_001017423.1:n.2200+15G>A
NM_001323412.2:c.1873+15G>A	NP_001310341.1:n.1873+15G>A
NM_001323413.2:c.2206+15G>A	NP_001310342.1:n.2206+15G>A
NM_001323414.2:c.2206+15G>A	NP_001310343.1:n.2206+15G>A
NM_001323415.2:c.2200+15G>A	NP_001310344.1:n.2200+15G>A
NM_001323416.2:c.1873+15G>A	NP_001310345.1:n.1873+15G>A
NM_001323417.2:c.2101+15G>A	NP_001310346.1:n.2101+15G>A
NM_001323418.2:c.1867+15G>A	NP_001310347.1:n.1867+15G>A
NM_001323419.2:c.1570+15G>A	NP_001310348.1:n.1570+15G>A