Canonical Allele Identifier: CA2201615040

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362314T= , CM000678.2:g.1362314T=	GRCh38
NC_000016.9:g.1412315T= , CM000678.1:g.1412315T=	GRCh37
NC_000016.8:g.1352316T=	NCBI36
NG_016985.1:g.15416T=
NG_033129.1:g.57391A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.619T=
ENST00000529110.2:c.604T=	ENSP00000435349.2:p.Leu202=
ENST00000529957.6:n.578T=
ENST00000683366.1:c.*252T=	ENSP00000507283.1:n.*252T=
ENST00000683887.1:c.568T=	ENSP00000506886.1:p.Leu190=
ENST00000684100.1:n.514T=
ENST00000684126.1:n.578T=
ENST00000684688.1:n.1145T=
ENST00000204679.9:c.520T= MANE Select	ENSP00000204679.4:p.Leu174=
ENST00000204679.8:c.520T=	ENSP00000204679.4:p.Leu174=
ENST00000527076.1:n.1536T=
ENST00000527168.5:n.556T=
ENST00000529957.5:n.619T=
NM_032520.4:c.520T=	NP_115909.1:p.Leu174=
XM_017023782.1:c.568T=	XP_016879271.1:p.Leu190=
XM_017023783.1:c.160T=	XP_016879272.1:p.Leu54=
NM_032520.5:c.520T= MANE Select	NP_115909.1:p.Leu174=