Canonical Allele Identifier: CA2201615013

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362282T= , CM000678.2:g.1362282T=	GRCh38
NC_000016.9:g.1412283T= , CM000678.1:g.1412283T=	GRCh37
NC_000016.8:g.1352284T=	NCBI36
NG_016985.1:g.15384T=
NG_033129.1:g.57423A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.587T=
ENST00000529110.2:c.572T=	ENSP00000435349.2:p.Phe191=
ENST00000529957.6:n.546T=
ENST00000683366.1:c.*220T=	ENSP00000507283.1:n.*220T=
ENST00000683887.1:c.536T=	ENSP00000506886.1:p.Phe179=
ENST00000684100.1:n.482T=
ENST00000684126.1:n.546T=
ENST00000684688.1:n.1113T=
ENST00000204679.9:c.488T= MANE Select	ENSP00000204679.4:p.Phe163=
ENST00000204679.8:c.488T=	ENSP00000204679.4:p.Phe163=
ENST00000527076.1:n.1504T=
ENST00000527168.5:n.524T=
ENST00000529957.5:n.587T=
NM_032520.4:c.488T=	NP_115909.1:p.Phe163=
XM_017023782.1:c.536T=	XP_016879271.1:p.Phe179=
XM_017023783.1:c.128T=	XP_016879272.1:p.Phe43=
NM_032520.5:c.488T= MANE Select	NP_115909.1:p.Phe163=