Canonical Allele Identifier: CA2201614330
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1361989C= , CM000678.2:g.1361989C= GRCh38
NC_000016.9:g.1411990C= , CM000678.1:g.1411990C= GRCh37
NC_000016.8:g.1351991C= NCBI36
NG_016985.1:g.15091C=
NG_033129.1:g.57716G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.416+34C=
ENST00000529110.2:c.401+34C= ENSP00000435349.2:n.401+34C=
ENST00000529957.6:n.375+34C=
ENST00000683366.1:c.*49+34C= ENSP00000507283.1:n.*49+34C=
ENST00000683887.1:c.365+34C= ENSP00000506886.1:n.365+34C=
ENST00000684100.1:n.311+34C=
ENST00000684126.1:n.375+34C=
ENST00000684688.1:n.942+34C=
ENST00000204679.9:c.317+34C= MANE Select ENSP00000204679.4:n.317+34C=
ENST00000204679.8:c.317+34C= ENSP00000204679.4:n.317+34C=
ENST00000526820.5:c.*219+34C= ENSP00000434413.1:n.*219+34C=
ENST00000527076.1:n.1333+34C=
ENST00000527168.5:n.353+34C=
ENST00000529110.1:c.384+34C=
ENST00000529957.5:n.416+34C=
NM_032520.4:c.317+34C= NP_115909.1:n.317+34C=
XM_017023782.1:c.365+34C= XP_016879271.1:n.365+34C=
XM_017023783.1:c.-44+34C= XP_016879272.1:n.-44+34C=
NM_032520.5:c.317+34C= MANE Select NP_115909.1:n.317+34C=