Canonical Allele Identifier: CA1148712443

Gene: GNPAT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231265301G= , CM000663.2:g.231265301G=	GRCh38
NC_000001.10:g.231401047G= , CM000663.1:g.231401047G=	GRCh37
NC_000001.9:g.229467670G=	NCBI36
NG_008240.1:g.29129G=
NG_008240.2:g.29129G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366647.9:c.577G= MANE Select	ENSP00000355607.4:p.Gly193=
ENST00000644483.1:c.*263G=	ENSP00000496537.1:n.*263G=
ENST00000366647.8:c.577G=	ENSP00000355607.4:p.Gly193=
ENST00000416000.1:c.547G=	ENSP00000411640.1:p.Gly183=
ENST00000436239.5:c.394G=	ENSP00000402811.1:p.Gly132=
NM_001316350.1:c.394G=	NP_001303279.1:p.Gly132=
NM_014236.3:c.577G=	NP_055051.1:p.Gly193=
XM_005273313.3:c.574G=	XP_005273370.1:p.Gly192=
XM_011544303.1:c.250G=	XP_011542605.1:p.Gly84=
XM_011544304.1:c.250G=	XP_011542606.1:p.Gly84=
XM_005273313.4:c.574G=	XP_005273370.1:p.Gly192=
XM_011544303.3:c.250G=	XP_011542605.1:p.Gly84=
XM_011544304.2:c.250G=	XP_011542606.1:p.Gly84=
NM_014236.4:c.577G= MANE Select	NP_055051.1:p.Gly193=
NM_001316350.2:c.394G=	NP_001303279.1:p.Gly132=