Canonical Allele Identifier: CA2201615467

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362901C= , CM000678.2:g.1362901C=	GRCh38
NC_000016.9:g.1412902C= , CM000678.1:g.1412902C=	GRCh37
NC_000016.8:g.1352903C=	NCBI36
NG_016985.1:g.16003C=
NG_033129.1:g.56804G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.917C=
ENST00000529110.2:c.902C=	ENSP00000435349.2:p.Pro301=
ENST00000529957.6:n.876C=
ENST00000683366.1:c.*550C=	ENSP00000507283.1:n.*550C=
ENST00000683887.1:c.866C=	ENSP00000506886.1:p.Pro289=
ENST00000684100.1:n.812C=
ENST00000684126.1:n.952C=
ENST00000684688.1:n.1443C=
ENST00000204679.9:c.818C= MANE Select	ENSP00000204679.4:p.Pro273=
ENST00000204679.8:c.818C=	ENSP00000204679.4:p.Pro273=
ENST00000527076.1:n.2041C=
ENST00000527168.5:n.985C=
ENST00000529957.5:n.917C=
NM_032520.4:c.818C=	NP_115909.1:p.Pro273=
XM_017023782.1:c.866C=	XP_016879271.1:p.Pro289=
XM_017023783.1:c.458C=	XP_016879272.1:p.Pro153=
NM_032520.5:c.818C= MANE Select	NP_115909.1:p.Pro273=