Canonical Allele Identifier: CA279128
Gene: ALDH18A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 217261
ClinVar RCV Id: RCV000201214 RCV000856780
dbSNP Id: rs863225045
MyVariant Identifiers: chr10:g.97397084C>A (hg19) chr10:g.95637327C>A (hg38)
PubMed: PMID:26320891
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.95637327C>A , CM000672.2:g.95637327C>A GRCh38
NC_000010.10:g.97397084C>A , CM000672.1:g.97397084C>A GRCh37
NC_000010.9:g.97387074C>A NCBI36
NG_012258.1:g.24484G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371224.7:c.413G>T MANE Select ENSP00000360268.2:p.Arg138Leu
ENST00000371221.3:c.413G>T ENSP00000360265.3:p.Arg138Leu
ENST00000371224.6:c.413G>T ENSP00000360268.2:p.Arg138Leu
ENST00000483788.1:n.605G>T
NM_001017423.1:c.413G>T NP_001017423.1:p.Arg138Leu
NM_002860.3:c.413G>T NP_002851.2:p.Arg138Leu
XM_006717933.1:c.413G>T XP_006717996.1:p.Arg138Leu
XM_011540001.1:c.80G>T XP_011538303.1:p.Arg27Leu
NM_001323412.1:c.80G>T NP_001310341.1:p.Arg27Leu
NM_001323413.1:c.413G>T NP_001310342.1:p.Arg138Leu
NM_001323414.1:c.413G>T NP_001310343.1:p.Arg138Leu
NM_001323415.1:c.413G>T NP_001310344.1:p.Arg138Leu
NM_001323416.1:c.80G>T NP_001310345.1:p.Arg27Leu
NM_001323417.1:c.413G>T NP_001310346.1:p.Arg138Leu
NM_001323418.1:c.80G>T NP_001310347.1:p.Arg27Leu
NM_001323419.1:c.-78-3678G>T NP_001310348.1:n.-78-3678G>T
XM_024448094.1:c.413G>T XP_024303862.1:p.Arg138Leu
XM_024448095.1:c.413G>T XP_024303863.1:p.Arg138Leu
XM_024448096.1:c.413G>T XP_024303864.1:p.Arg138Leu
XM_024448097.1:c.80G>T XP_024303865.1:p.Arg27Leu
NM_002860.4:c.413G>T MANE Select NP_002851.2:p.Arg138Leu
NM_001017423.2:c.413G>T NP_001017423.1:p.Arg138Leu
NM_001323412.2:c.80G>T NP_001310341.1:p.Arg27Leu
NM_001323413.2:c.413G>T NP_001310342.1:p.Arg138Leu
NM_001323414.2:c.413G>T NP_001310343.1:p.Arg138Leu
NM_001323415.2:c.413G>T NP_001310344.1:p.Arg138Leu
NM_001323416.2:c.80G>T NP_001310345.1:p.Arg27Leu
NM_001323417.2:c.413G>T NP_001310346.1:p.Arg138Leu
NM_001323418.2:c.80G>T NP_001310347.1:p.Arg27Leu
NM_001323419.2:c.-78-3678G>T NP_001310348.1:n.-78-3678G>T
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