Canonical Allele Identifier: CA2201615014

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362283C= , CM000678.2:g.1362283C=	GRCh38
NC_000016.9:g.1412284C= , CM000678.1:g.1412284C=	GRCh37
NC_000016.8:g.1352285C=	NCBI36
NG_016985.1:g.15385C=
NG_033129.1:g.57422G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.588C=
ENST00000529110.2:c.573C=	ENSP00000435349.2:p.Phe191=
ENST00000529957.6:n.547C=
ENST00000683366.1:c.*221C=	ENSP00000507283.1:n.*221C=
ENST00000683887.1:c.537C=	ENSP00000506886.1:p.Phe179=
ENST00000684100.1:n.483C=
ENST00000684126.1:n.547C=
ENST00000684688.1:n.1114C=
ENST00000204679.9:c.489C= MANE Select	ENSP00000204679.4:p.Phe163=
ENST00000204679.8:c.489C=	ENSP00000204679.4:p.Phe163=
ENST00000527076.1:n.1505C=
ENST00000527168.5:n.525C=
ENST00000529957.5:n.588C=
NM_032520.4:c.489C=	NP_115909.1:p.Phe163=
XM_017023782.1:c.537C=	XP_016879271.1:p.Phe179=
XM_017023783.1:c.129C=	XP_016879272.1:p.Phe43=
NM_032520.5:c.489C= MANE Select	NP_115909.1:p.Phe163=