Canonical Allele Identifier: CA279055
Gene: ALDH18A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 217118
ClinVar RCV Id: RCV000200954 RCV003765293
dbSNP Id: rs863224945
MyVariant Identifiers: chr10:g.97397138A>G (hg19) chr10:g.95637381A>G (hg38)
PubMed: PMID:26026163 PMID:26297558
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.95637381A>G , CM000672.2:g.95637381A>G GRCh38
NC_000010.10:g.97397138A>G , CM000672.1:g.97397138A>G GRCh37
NC_000010.9:g.97387128A>G NCBI36
NG_012258.1:g.24430T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371224.7:c.359T>C MANE Select ENSP00000360268.2:p.Val120Ala
ENST00000371221.3:c.359T>C ENSP00000360265.3:p.Val120Ala
ENST00000371224.6:c.359T>C ENSP00000360268.2:p.Val120Ala
ENST00000483788.1:n.551T>C
NM_001017423.1:c.359T>C NP_001017423.1:p.Val120Ala
NM_002860.3:c.359T>C NP_002851.2:p.Val120Ala
XM_006717933.1:c.359T>C XP_006717996.1:p.Val120Ala
XM_011540001.1:c.26T>C XP_011538303.1:p.Val9Ala
NM_001323412.1:c.26T>C NP_001310341.1:p.Val9Ala
NM_001323413.1:c.359T>C NP_001310342.1:p.Val120Ala
NM_001323414.1:c.359T>C NP_001310343.1:p.Val120Ala
NM_001323415.1:c.359T>C NP_001310344.1:p.Val120Ala
NM_001323416.1:c.26T>C NP_001310345.1:p.Val9Ala
NM_001323417.1:c.359T>C NP_001310346.1:p.Val120Ala
NM_001323418.1:c.26T>C NP_001310347.1:p.Val9Ala
NM_001323419.1:c.-78-3732T>C NP_001310348.1:n.-78-3732T>C
XM_024448094.1:c.359T>C XP_024303862.1:p.Val120Ala
XM_024448095.1:c.359T>C XP_024303863.1:p.Val120Ala
XM_024448096.1:c.359T>C XP_024303864.1:p.Val120Ala
XM_024448097.1:c.26T>C XP_024303865.1:p.Val9Ala
NM_002860.4:c.359T>C MANE Select NP_002851.2:p.Val120Ala
NM_001017423.2:c.359T>C NP_001017423.1:p.Val120Ala
NM_001323412.2:c.26T>C NP_001310341.1:p.Val9Ala
NM_001323413.2:c.359T>C NP_001310342.1:p.Val120Ala
NM_001323414.2:c.359T>C NP_001310343.1:p.Val120Ala
NM_001323415.2:c.359T>C NP_001310344.1:p.Val120Ala
NM_001323416.2:c.26T>C NP_001310345.1:p.Val9Ala
NM_001323417.2:c.359T>C NP_001310346.1:p.Val120Ala
NM_001323418.2:c.26T>C NP_001310347.1:p.Val9Ala
NM_001323419.2:c.-78-3732T>C NP_001310348.1:n.-78-3732T>C
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