Canonical Allele Identifier: CA5620118

Gene: ALDH18A1

Linked Data

• ClinVar Variation Id: 382497
• ClinVar RCV Id: RCV000432641 ; RCV003766248
• dbSNP Id: rs774916138
• ExAC: 10:97369965 C / T
• gnomAD v2: 10-97369965-C-T
• gnomAD v4: 10-95610208-C-T
• MyVariant Identifiers: chr10:g.97369965C>T (hg19) ; chr10:g.95610208C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.95610208C>T , CM000672.2:g.95610208C>T	GRCh38
NC_000010.10:g.97369965C>T , CM000672.1:g.97369965C>T	GRCh37
NC_000010.9:g.97359955C>T	NCBI36
NG_012258.1:g.51603G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371224.7:c.2195G>A MANE Select	ENSP00000360268.2:p.Arg732His
ENST00000371221.3:c.2189G>A	ENSP00000360265.3:p.Arg730His
ENST00000371224.6:c.2195G>A	ENSP00000360268.2:p.Arg732His
NM_001017423.1:c.2189G>A	NP_001017423.1:p.Arg730His
NM_002860.3:c.2195G>A	NP_002851.2:p.Arg732His
XM_006717933.1:c.2195G>A	XP_006717996.1:p.Arg732His
XM_011540001.1:c.1862G>A	XP_011538303.1:p.Arg621His
NM_001323412.1:c.1862G>A	NP_001310341.1:p.Arg621His
NM_001323413.1:c.2195G>A	NP_001310342.1:p.Arg732His
NM_001323414.1:c.2195G>A	NP_001310343.1:p.Arg732His
NM_001323415.1:c.2189G>A	NP_001310344.1:p.Arg730His
NM_001323416.1:c.1862G>A	NP_001310345.1:p.Arg621His
NM_001323417.1:c.2090G>A	NP_001310346.1:p.Arg697His
NM_001323418.1:c.1856G>A	NP_001310347.1:p.Arg619His
NM_001323419.1:c.1559G>A	NP_001310348.1:p.Arg520His
XM_024448094.1:c.2297G>A	XP_024303862.1:p.Arg766His
XM_024448095.1:c.2297G>A	XP_024303863.1:p.Arg766His
XM_024448096.1:c.2291G>A	XP_024303864.1:p.Arg764His
XM_024448097.1:c.1964G>A	XP_024303865.1:p.Arg655His
NM_002860.4:c.2195G>A MANE Select	NP_002851.2:p.Arg732His
NM_001017423.2:c.2189G>A	NP_001017423.1:p.Arg730His
NM_001323412.2:c.1862G>A	NP_001310341.1:p.Arg621His
NM_001323413.2:c.2195G>A	NP_001310342.1:p.Arg732His
NM_001323414.2:c.2195G>A	NP_001310343.1:p.Arg732His
NM_001323415.2:c.2189G>A	NP_001310344.1:p.Arg730His
NM_001323416.2:c.1862G>A	NP_001310345.1:p.Arg621His
NM_001323417.2:c.2090G>A	NP_001310346.1:p.Arg697His
NM_001323418.2:c.1856G>A	NP_001310347.1:p.Arg619His
NM_001323419.2:c.1559G>A	NP_001310348.1:p.Arg520His