Canonical Allele Identifier: CA2201615452

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362884C= , CM000678.2:g.1362884C=	GRCh38
NC_000016.9:g.1412885C= , CM000678.1:g.1412885C=	GRCh37
NC_000016.8:g.1352886C=	NCBI36
NG_016985.1:g.15986C=
NG_033129.1:g.56821G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.900C=
ENST00000529110.2:c.885C=	ENSP00000435349.2:p.Gly295=
ENST00000529957.6:n.859C=
ENST00000683366.1:c.*533C=	ENSP00000507283.1:n.*533C=
ENST00000683887.1:c.849C=	ENSP00000506886.1:p.Gly283=
ENST00000684100.1:n.795C=
ENST00000684126.1:n.935C=
ENST00000684688.1:n.1426C=
ENST00000204679.9:c.801C= MANE Select	ENSP00000204679.4:p.Gly267=
ENST00000204679.8:c.801C=	ENSP00000204679.4:p.Gly267=
ENST00000527076.1:n.2024C=
ENST00000527168.5:n.968C=
ENST00000529957.5:n.900C=
NM_032520.4:c.801C=	NP_115909.1:p.Gly267=
XM_017023782.1:c.849C=	XP_016879271.1:p.Gly283=
XM_017023783.1:c.441C=	XP_016879272.1:p.Gly147=
NM_032520.5:c.801C= MANE Select	NP_115909.1:p.Gly267=