Canonical Allele Identifier: CA2201614709

Gene: GNPTG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1362119C= , CM000678.2:g.1362119C=	GRCh38
NC_000016.9:g.1412120C= , CM000678.1:g.1412120C=	GRCh37
NC_000016.8:g.1352121C=	NCBI36
NG_016985.1:g.15221C=
NG_033129.1:g.57586G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527168.6:n.498C=
ENST00000529110.2:c.483C=	ENSP00000435349.2:p.Ser161=
ENST00000529957.6:n.457C=
ENST00000683366.1:c.*131C=	ENSP00000507283.1:n.*131C=
ENST00000683887.1:c.447C=	ENSP00000506886.1:p.Ser149=
ENST00000684100.1:n.393C=
ENST00000684126.1:n.457C=
ENST00000684688.1:n.1024C=
ENST00000204679.9:c.399C= MANE Select	ENSP00000204679.4:p.Ser133=
ENST00000204679.8:c.399C=	ENSP00000204679.4:p.Ser133=
ENST00000526820.5:c.*301C=	ENSP00000434413.1:n.*301C=
ENST00000527076.1:n.1415C=
ENST00000527168.5:n.435C=
ENST00000529110.1:c.466C=
ENST00000529957.5:n.498C=
NM_032520.4:c.399C=	NP_115909.1:p.Ser133=
XM_017023782.1:c.447C=	XP_016879271.1:p.Ser149=
XM_017023783.1:c.39C=	XP_016879272.1:p.Ser13=
NM_032520.5:c.399C= MANE Select	NP_115909.1:p.Ser133=