Canonical Allele Identifier: CA118535
Gene: GNPAT HGNC NCBI

Linked Data

ClinVar Variation Id: 6842
dbSNP Id: rs121434440

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.231265355C>T , CM000663.2:g.231265355C>T GRCh38
NC_000001.10:g.231401101C>T , CM000663.1:g.231401101C>T GRCh37
NC_000001.9:g.229467724C>T NCBI36
NG_008240.1:g.29183C>T
NG_008240.2:g.29183C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366647.9:c.631C>T MANE Select ENSP00000355607.4:p.Arg211Cys
ENST00000644483.1:c.*317C>T ENSP00000496537.1:n.*317C>T
ENST00000366647.8:c.631C>T ENSP00000355607.4:p.Arg211Cys
ENST00000416000.1:c.601C>T ENSP00000411640.1:p.Arg201Cys
ENST00000436239.5:c.448C>T ENSP00000402811.1:p.Arg150Cys
NM_001316350.1:c.448C>T NP_001303279.1:p.Arg150Cys
NM_014236.3:c.631C>T NP_055051.1:p.Arg211Cys
XM_005273313.3:c.628C>T XP_005273370.1:p.Arg210Cys
XM_011544303.1:c.304C>T XP_011542605.1:p.Arg102Cys
XM_011544304.1:c.304C>T XP_011542606.1:p.Arg102Cys
XM_005273313.4:c.628C>T XP_005273370.1:p.Arg210Cys
XM_011544303.3:c.304C>T XP_011542605.1:p.Arg102Cys
XM_011544304.2:c.304C>T XP_011542606.1:p.Arg102Cys
NM_014236.4:c.631C>T MANE Select NP_055051.1:p.Arg211Cys
NM_001316350.2:c.448C>T NP_001303279.1:p.Arg150Cys