Canonical Allele Identifier: CA2201614129

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1361903G= , CM000678.2:g.1361903G=	GRCh38
NC_000016.9:g.1411904G= , CM000678.1:g.1411904G=	GRCh37
NC_000016.8:g.1351905G=	NCBI36
NG_016985.1:g.15005G=
NG_033129.1:g.57802C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.364G=
ENST00000529110.2:c.349G=	ENSP00000435349.2:p.Val117=
ENST00000529957.6:n.323G=
ENST00000683366.1:c.210G=	ENSP00000507283.1:p.Thr70=
ENST00000683887.1:c.313G=	ENSP00000506886.1:p.Val105=
ENST00000684100.1:n.259G=
ENST00000684126.1:n.323G=
ENST00000684688.1:n.890G=
ENST00000204679.9:c.265G= MANE Select	ENSP00000204679.4:p.Val89=
ENST00000204679.8:c.265G=	ENSP00000204679.4:p.Val89=
ENST00000526820.5:c.*167G=	ENSP00000434413.1:n.*167G=
ENST00000527076.1:n.1281G=
ENST00000527168.5:n.301G=
ENST00000529110.1:c.332G=
ENST00000529957.5:n.364G=
NM_032520.4:c.265G=	NP_115909.1:p.Val89=
XM_017023782.1:c.313G=	XP_016879271.1:p.Val105=
XM_017023783.1:c.-96G=	XP_016879272.1:n.-96G=
NM_032520.5:c.265G= MANE Select	NP_115909.1:p.Val89=