Canonical Allele Identifier: CA2201613827
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1361795C= , CM000678.2:g.1361795C= GRCh38
NC_000016.9:g.1411796C= , CM000678.1:g.1411796C= GRCh37
NC_000016.8:g.1351797C= NCBI36
NG_016985.1:g.14897C=
NG_033129.1:g.57910G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.330C=
ENST00000529110.2:c.315C= ENSP00000435349.2:p.Ser105=
ENST00000529957.6:n.289C=
ENST00000683366.1:c.179-77C= ENSP00000507283.1:n.179-77C=
ENST00000683887.1:c.279C= ENSP00000506886.1:p.Ser93=
ENST00000684100.1:n.151C=
ENST00000684126.1:n.289C=
ENST00000684688.1:n.856C=
ENST00000204679.9:c.231C= MANE Select ENSP00000204679.4:p.Ser77=
ENST00000204679.8:c.231C= ENSP00000204679.4:p.Ser77=
ENST00000526820.5:c.*133C= ENSP00000434413.1:n.*133C=
ENST00000527076.1:n.1173C=
ENST00000527168.5:n.270-77C=
ENST00000529110.1:c.298C=
ENST00000529957.5:n.330C=
NM_032520.4:c.231C= NP_115909.1:p.Ser77=
XM_017023782.1:c.279C= XP_016879271.1:p.Ser93=
XM_017023783.1:c.-130C= XP_016879272.1:n.-130C=
NM_032520.5:c.231C= MANE Select NP_115909.1:p.Ser77=