Canonical Allele Identifier: CA1226898709
Gene: GNPAT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.231265302G= , CM000663.2:g.231265302G= GRCh38
NC_000001.10:g.231401048G= , CM000663.1:g.231401048G= GRCh37
NC_000001.9:g.229467671G= NCBI36
NG_008240.1:g.29130G=
NG_008240.2:g.29130G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000366647.9:c.578G= MANE Select ENSP00000355607.4:p.Gly193=
ENST00000644483.1:c.*264G= ENSP00000496537.1:n.*264G=
ENST00000366647.8:c.578G= ENSP00000355607.4:p.Gly193=
ENST00000416000.1:c.548G= ENSP00000411640.1:p.Gly183=
ENST00000436239.5:c.395G= ENSP00000402811.1:p.Gly132=
NM_001316350.1:c.395G= NP_001303279.1:p.Gly132=
NM_014236.3:c.578G= NP_055051.1:p.Gly193=
XM_005273313.3:c.575G= XP_005273370.1:p.Gly192=
XM_011544303.1:c.251G= XP_011542605.1:p.Gly84=
XM_011544304.1:c.251G= XP_011542606.1:p.Gly84=
XM_005273313.4:c.575G= XP_005273370.1:p.Gly192=
XM_011544303.3:c.251G= XP_011542605.1:p.Gly84=
XM_011544304.2:c.251G= XP_011542606.1:p.Gly84=
NM_014236.4:c.578G= MANE Select NP_055051.1:p.Gly193=
NM_001316350.2:c.395G= NP_001303279.1:p.Gly132=