Canonical Allele Identifier: CA2201615500

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362945C= , CM000678.2:g.1362945C=	GRCh38
NC_000016.9:g.1412946C= , CM000678.1:g.1412946C=	GRCh37
NC_000016.8:g.1352947C=	NCBI36
NG_016985.1:g.16047C=
NG_033129.1:g.56760G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.922+39C=
ENST00000529110.2:c.907+39C=	ENSP00000435349.2:n.907+39C=
ENST00000529957.6:n.881+39C=
ENST00000683366.1:c.*555+39C=	ENSP00000507283.1:n.*555+39C=
ENST00000683887.1:c.871+39C=	ENSP00000506886.1:n.871+39C=
ENST00000684100.1:n.817+39C=
ENST00000684126.1:n.957+39C=
ENST00000684688.1:n.1448+39C=
ENST00000204679.9:c.823+39C= MANE Select	ENSP00000204679.4:n.823+39C=
ENST00000204679.8:c.823+39C=	ENSP00000204679.4:n.823+39C=
ENST00000527076.1:n.2046+39C=
ENST00000527168.5:n.990+39C=
NM_032520.4:c.823+39C=	NP_115909.1:n.823+39C=
XM_017023782.1:c.871+39C=	XP_016879271.1:n.871+39C=
XM_017023783.1:c.463+39C=	XP_016879272.1:n.463+39C=
NM_032520.5:c.823+39C= MANE Select	NP_115909.1:n.823+39C=