Canonical Allele Identifier: CA1226898707

Gene: GNPAT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231265299T= , CM000663.2:g.231265299T=	GRCh38
NC_000001.10:g.231401045T= , CM000663.1:g.231401045T=	GRCh37
NC_000001.9:g.229467668T=	NCBI36
NG_008240.1:g.29127T=
NG_008240.2:g.29127T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366647.9:c.575T= MANE Select	ENSP00000355607.4:p.Leu192=
ENST00000644483.1:c.*261T=	ENSP00000496537.1:n.*261T=
ENST00000366647.8:c.575T=	ENSP00000355607.4:p.Leu192=
ENST00000416000.1:c.545T=	ENSP00000411640.1:p.Leu182=
ENST00000436239.5:c.392T=	ENSP00000402811.1:p.Leu131=
NM_001316350.1:c.392T=	NP_001303279.1:p.Leu131=
NM_014236.3:c.575T=	NP_055051.1:p.Leu192=
XM_005273313.3:c.572T=	XP_005273370.1:p.Leu191=
XM_011544303.1:c.248T=	XP_011542605.1:p.Leu83=
XM_011544304.1:c.248T=	XP_011542606.1:p.Leu83=
XM_005273313.4:c.572T=	XP_005273370.1:p.Leu191=
XM_011544303.3:c.248T=	XP_011542605.1:p.Leu83=
XM_011544304.2:c.248T=	XP_011542606.1:p.Leu83=
NM_014236.4:c.575T= MANE Select	NP_055051.1:p.Leu192=
NM_001316350.2:c.392T=	NP_001303279.1:p.Leu131=