Canonical Allele Identifier: CA10636968
Gene: ALDH18A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 301746
ClinVar RCV Id: RCV000273322
dbSNP Id: rs4037

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.95606063G>A , CM000672.2:g.95606063G>A GRCh38
NC_000010.10:g.97365820G>A , CM000672.1:g.97365820G>A GRCh37
NC_000010.9:g.97355810G>A NCBI36
NG_012258.1:g.55748C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371224.7:c.*699C>T MANE Select ENSP00000360268.2:n.*699C>T
ENST00000371221.3:c.*699C>T ENSP00000360265.3:n.*699C>T
ENST00000371224.6:c.*699C>T ENSP00000360268.2:n.*699C>T
NM_001017423.1:c.*699C>T NP_001017423.1:n.*699C>T
NM_002860.3:c.*699C>T NP_002851.2:n.*699C>T
XM_006717933.1:c.*699C>T XP_006717996.1:n.*699C>T
XM_011540001.1:c.*699C>T XP_011538303.1:n.*699C>T
NM_001323412.1:c.*699C>T NP_001310341.1:n.*699C>T
NM_001323413.1:c.*699C>T NP_001310342.1:n.*699C>T
NM_001323414.1:c.*699C>T NP_001310343.1:n.*699C>T
NM_001323415.1:c.*699C>T NP_001310344.1:n.*699C>T
NM_001323416.1:c.*699C>T NP_001310345.1:n.*699C>T
NM_001323417.1:c.*699C>T NP_001310346.1:n.*699C>T
NM_001323418.1:c.*699C>T NP_001310347.1:n.*699C>T
NM_001323419.1:c.*699C>T NP_001310348.1:n.*699C>T
XM_024448094.1:c.*699C>T XP_024303862.1:n.*699C>T
XM_024448095.1:c.*699C>T XP_024303863.1:n.*699C>T
XM_024448096.1:c.*699C>T XP_024303864.1:n.*699C>T
XM_024448097.1:c.*699C>T XP_024303865.1:n.*699C>T
NM_002860.4:c.*699C>T MANE Select NP_002851.2:n.*699C>T
NM_001017423.2:c.*699C>T NP_001017423.1:n.*699C>T
NM_001323412.2:c.*699C>T NP_001310341.1:n.*699C>T
NM_001323413.2:c.*699C>T NP_001310342.1:n.*699C>T
NM_001323414.2:c.*699C>T NP_001310343.1:n.*699C>T
NM_001323415.2:c.*699C>T NP_001310344.1:n.*699C>T
NM_001323416.2:c.*699C>T NP_001310345.1:n.*699C>T
NM_001323417.2:c.*699C>T NP_001310346.1:n.*699C>T
NM_001323418.2:c.*699C>T NP_001310347.1:n.*699C>T
NM_001323419.2:c.*699C>T NP_001310348.1:n.*699C>T