Canonical Allele Identifier: CA493026335

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361760C>A , CM000678.2:g.1361760C>A	GRCh38
NC_000016.9:g.1411761C>A , CM000678.1:g.1411761C>A	GRCh37
NC_000016.8:g.1351762C>A	NCBI36
NG_016985.1:g.14862C>A
NG_033129.1:g.57945G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_032520.5:c.196C>A MANE Select	NP_115909.1:p.Arg66=
ENST00000204679.9:c.196C>A MANE Select	ENSP00000204679.4:p.Arg66=
NM_032520.4:c.196C>A	NP_115909.1:p.Arg66=
ENST00000204679.8:c.196C>A	ENSP00000204679.4:p.Arg66=
ENST00000526820.5:c.*98C>A	ENSP00000434413.1:n.*98C>A
ENST00000527076.1:n.1138C>A
ENST00000527168.5:n.270-112C>A
ENST00000527168.6:n.295C>A
ENST00000529110.1:c.263C>A
ENST00000529110.2:c.280C>A	ENSP00000435349.2:p.Arg94=
ENST00000529957.5:n.295C>A
ENST00000529957.6:n.254C>A
ENST00000683366.1:c.179-112C>A	ENSP00000507283.1:n.179-112C>A
ENST00000683887.1:c.244C>A	ENSP00000506886.1:p.Arg82=
ENST00000684100.1:n.116C>A
ENST00000684126.1:n.254C>A
ENST00000684688.1:n.821C>A
XM_017023782.1:c.244C>A	XP_016879271.1:p.Arg82=
XM_017023783.1:c.-165C>A	XP_016879272.1:n.-165C>A