Canonical Allele Identifier: CA5620592
Gene: ALDH18A1 HGNC NCBI

Linked Data

dbSNP Id: rs770695288

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.95637185A>C , CM000672.2:g.95637185A>C GRCh38
NC_000010.10:g.97396942A>C , CM000672.1:g.97396942A>C GRCh37
NC_000010.9:g.97386932A>C NCBI36
NG_012258.1:g.24626T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371224.7:c.466T>G MANE Select ENSP00000360268.2:p.Leu156Val
ENST00000371221.3:c.466T>G ENSP00000360265.3:p.Leu156Val
ENST00000371224.6:c.466T>G ENSP00000360268.2:p.Leu156Val
ENST00000483788.1:n.658T>G
NM_001017423.1:c.466T>G NP_001017423.1:p.Leu156Val
NM_002860.3:c.466T>G NP_002851.2:p.Leu156Val
XM_006717933.1:c.466T>G XP_006717996.1:p.Leu156Val
XM_011540001.1:c.133T>G XP_011538303.1:p.Leu45Val
NM_001323412.1:c.133T>G NP_001310341.1:p.Leu45Val
NM_001323413.1:c.466T>G NP_001310342.1:p.Leu156Val
NM_001323414.1:c.466T>G NP_001310343.1:p.Leu156Val
NM_001323415.1:c.466T>G NP_001310344.1:p.Leu156Val
NM_001323416.1:c.133T>G NP_001310345.1:p.Leu45Val
NM_001323417.1:c.453+102T>G NP_001310346.1:n.453+102T>G
NM_001323418.1:c.133T>G NP_001310347.1:p.Leu45Val
NM_001323419.1:c.-78-3536T>G NP_001310348.1:n.-78-3536T>G
XM_024448094.1:c.466T>G XP_024303862.1:p.Leu156Val
XM_024448095.1:c.466T>G XP_024303863.1:p.Leu156Val
XM_024448096.1:c.466T>G XP_024303864.1:p.Leu156Val
XM_024448097.1:c.133T>G XP_024303865.1:p.Leu45Val
NM_002860.4:c.466T>G MANE Select NP_002851.2:p.Leu156Val
NM_001017423.2:c.466T>G NP_001017423.1:p.Leu156Val
NM_001323412.2:c.133T>G NP_001310341.1:p.Leu45Val
NM_001323413.2:c.466T>G NP_001310342.1:p.Leu156Val
NM_001323414.2:c.466T>G NP_001310343.1:p.Leu156Val
NM_001323415.2:c.466T>G NP_001310344.1:p.Leu156Val
NM_001323416.2:c.133T>G NP_001310345.1:p.Leu45Val
NM_001323417.2:c.453+102T>G NP_001310346.1:n.453+102T>G
NM_001323418.2:c.133T>G NP_001310347.1:p.Leu45Val
NM_001323419.2:c.-78-3536T>G NP_001310348.1:n.-78-3536T>G