Canonical Allele Identifier: CA2201614993

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362262C= , CM000678.2:g.1362262C=	GRCh38
NC_000016.9:g.1412263C= , CM000678.1:g.1412263C=	GRCh37
NC_000016.8:g.1352264C=	NCBI36
NG_016985.1:g.15364C=
NG_033129.1:g.57443G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.567C=
ENST00000529110.2:c.552C=	ENSP00000435349.2:p.Thr184=
ENST00000529957.6:n.526C=
ENST00000683366.1:c.*200C=	ENSP00000507283.1:n.*200C=
ENST00000683887.1:c.516C=	ENSP00000506886.1:p.Thr172=
ENST00000684100.1:n.462C=
ENST00000684126.1:n.526C=
ENST00000684688.1:n.1093C=
ENST00000204679.9:c.468C= MANE Select	ENSP00000204679.4:p.Thr156=
ENST00000204679.8:c.468C=	ENSP00000204679.4:p.Thr156=
ENST00000527076.1:n.1484C=
ENST00000527168.5:n.504C=
ENST00000529110.1:c.535C=
ENST00000529957.5:n.567C=
NM_032520.4:c.468C=	NP_115909.1:p.Thr156=
XM_017023782.1:c.516C=	XP_016879271.1:p.Thr172=
XM_017023783.1:c.108C=	XP_016879272.1:p.Thr36=
NM_032520.5:c.468C= MANE Select	NP_115909.1:p.Thr156=