Canonical Allele Identifier: CA2201613935
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1361831G= , CM000678.2:g.1361831G= GRCh38
NC_000016.9:g.1411832G= , CM000678.1:g.1411832G= GRCh37
NC_000016.8:g.1351833G= NCBI36
NG_016985.1:g.14933G=
NG_033129.1:g.57874C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.332+34G=
ENST00000529110.2:c.317+34G= ENSP00000435349.2:n.317+34G=
ENST00000529957.6:n.291+34G=
ENST00000683366.1:c.179-41G= ENSP00000507283.1:n.179-41G=
ENST00000683887.1:c.281+34G= ENSP00000506886.1:n.281+34G=
ENST00000684100.1:n.187G=
ENST00000684126.1:n.291+34G=
ENST00000684688.1:n.858+34G=
ENST00000204679.9:c.233+34G= MANE Select ENSP00000204679.4:n.233+34G=
ENST00000204679.8:c.233+34G= ENSP00000204679.4:n.233+34G=
ENST00000526820.5:c.*135+34G= ENSP00000434413.1:n.*135+34G=
ENST00000527076.1:n.1209G=
ENST00000527168.5:n.270-41G=
ENST00000529110.1:c.300+34G=
ENST00000529957.5:n.332+34G=
NM_032520.4:c.233+34G= NP_115909.1:n.233+34G=
XM_017023782.1:c.281+34G= XP_016879271.1:n.281+34G=
XM_017023783.1:c.-128+34G= XP_016879272.1:n.-128+34G=
NM_032520.5:c.233+34G= MANE Select NP_115909.1:n.233+34G=