Canonical Allele Identifier: CA2201614040
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1361872G= , CM000678.2:g.1361872G= GRCh38
NC_000016.9:g.1411873G= , CM000678.1:g.1411873G= GRCh37
NC_000016.8:g.1351874G= NCBI36
NG_016985.1:g.14974G=
NG_033129.1:g.57833C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.333G=
ENST00000529110.2:c.318G= ENSP00000435349.2:p.Thr106=
ENST00000529957.6:n.292G=
ENST00000683366.1:c.179G= ENSP00000507283.1:p.Gly60=
ENST00000683887.1:c.282G= ENSP00000506886.1:p.Thr94=
ENST00000684100.1:n.228G=
ENST00000684126.1:n.292G=
ENST00000684688.1:n.859G=
ENST00000204679.9:c.234G= MANE Select ENSP00000204679.4:p.Thr78=
ENST00000204679.8:c.234G= ENSP00000204679.4:p.Thr78=
ENST00000526820.5:c.*136G= ENSP00000434413.1:n.*136G=
ENST00000527076.1:n.1250G=
ENST00000527168.5:n.270G=
ENST00000529110.1:c.301G=
ENST00000529957.5:n.333G=
NM_032520.4:c.234G= NP_115909.1:p.Thr78=
XM_017023782.1:c.282G= XP_016879271.1:p.Thr94=
XM_017023783.1:c.-127G= XP_016879272.1:n.-127G=
NM_032520.5:c.234G= MANE Select NP_115909.1:p.Thr78=