Canonical Allele Identifier: CA2201614210

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361929C= , CM000678.2:g.1361929C=	GRCh38
NC_000016.9:g.1411930C= , CM000678.1:g.1411930C=	GRCh37
NC_000016.8:g.1351931C=	NCBI36
NG_016985.1:g.15031C=
NG_033129.1:g.57776G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.390C=
ENST00000529110.2:c.375C=	ENSP00000435349.2:p.Arg125=
ENST00000529957.6:n.349C=
ENST00000683366.1:c.*23C=	ENSP00000507283.1:n.*23C=
ENST00000683887.1:c.339C=	ENSP00000506886.1:p.Arg113=
ENST00000684100.1:n.285C=
ENST00000684126.1:n.349C=
ENST00000684688.1:n.916C=
ENST00000204679.9:c.291C= MANE Select	ENSP00000204679.4:p.Arg97=
ENST00000204679.8:c.291C=	ENSP00000204679.4:p.Arg97=
ENST00000526820.5:c.*193C=	ENSP00000434413.1:n.*193C=
ENST00000527076.1:n.1307C=
ENST00000527168.5:n.327C=
ENST00000529110.1:c.358C=
ENST00000529957.5:n.390C=
NM_032520.4:c.291C=	NP_115909.1:p.Arg97=
XM_017023782.1:c.339C=	XP_016879271.1:p.Arg113=
XM_017023783.1:c.-70C=	XP_016879272.1:n.-70C=
NM_032520.5:c.291C= MANE Select	NP_115909.1:p.Arg97=