Canonical Allele Identifier: CA345235788

Gene: GNPAT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231267782G>A , CM000663.2:g.231267782G>A	GRCh38
NC_000001.10:g.231403528G>A , CM000663.1:g.231403528G>A	GRCh37
NC_000001.9:g.229470151G>A	NCBI36
NG_008240.1:g.31610G>A
NG_008240.2:g.31610G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014236.4:c.1158G>A MANE Select	NP_055051.1:p.Trp386Ter
ENST00000366647.9:c.1158G>A MANE Select	ENSP00000355607.4:p.Trp386Ter
NM_001316350.1:c.975G>A	NP_001303279.1:p.Trp325Ter
NM_001316350.2:c.975G>A	NP_001303279.1:p.Trp325Ter
NM_014236.3:c.1158G>A	NP_055051.1:p.Trp386Ter
ENST00000366647.8:c.1158G>A	ENSP00000355607.4:p.Trp386Ter
ENST00000416000.1:c.1128G>A	ENSP00000411640.1:p.Trp376Ter
ENST00000492459.1:n.266G>A
ENST00000644483.1:c.*844G>A	ENSP00000496537.1:n.*844G>A
XM_005273313.3:c.1155G>A	XP_005273370.1:p.Trp385Ter
XM_005273313.4:c.1155G>A	XP_005273370.1:p.Trp385Ter
XM_011544303.1:c.831G>A	XP_011542605.1:p.Trp277Ter
XM_011544303.3:c.831G>A	XP_011542605.1:p.Trp277Ter
XM_011544304.1:c.831G>A	XP_011542606.1:p.Trp277Ter
XM_011544304.2:c.831G>A	XP_011542606.1:p.Trp277Ter