Canonical Allele Identifier: CA2201614509

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362051T= , CM000678.2:g.1362051T=	GRCh38
NC_000016.9:g.1412052T= , CM000678.1:g.1412052T=	GRCh37
NC_000016.8:g.1352053T=	NCBI36
NG_016985.1:g.15153T=
NG_033129.1:g.57654A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.430T=
ENST00000529110.2:c.415T=	ENSP00000435349.2:p.Trp139=
ENST00000529957.6:n.389T=
ENST00000683366.1:c.*63T=	ENSP00000507283.1:n.*63T=
ENST00000683887.1:c.379T=	ENSP00000506886.1:p.Trp127=
ENST00000684100.1:n.325T=
ENST00000684126.1:n.389T=
ENST00000684688.1:n.956T=
ENST00000204679.9:c.331T= MANE Select	ENSP00000204679.4:p.Trp111=
ENST00000204679.8:c.331T=	ENSP00000204679.4:p.Trp111=
ENST00000526820.5:c.*233T=	ENSP00000434413.1:n.*233T=
ENST00000527076.1:n.1347T=
ENST00000527168.5:n.367T=
ENST00000529110.1:c.398T=
ENST00000529957.5:n.430T=
NM_032520.4:c.331T=	NP_115909.1:p.Trp111=
XM_017023782.1:c.379T=	XP_016879271.1:p.Trp127=
XM_017023783.1:c.-30T=	XP_016879272.1:n.-30T=
NM_032520.5:c.331T= MANE Select	NP_115909.1:p.Trp111=