Canonical Allele Identifier: CA2201615084
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362373C= , CM000678.2:g.1362373C= GRCh38
NC_000016.9:g.1412374C= , CM000678.1:g.1412374C= GRCh37
NC_000016.8:g.1352375C= NCBI36
NG_016985.1:g.15475C=
NG_033129.1:g.57332G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.625+53C=
ENST00000529110.2:c.610+53C= ENSP00000435349.2:n.610+53C=
ENST00000529957.6:n.584+53C=
ENST00000683366.1:c.*258+53C= ENSP00000507283.1:n.*258+53C=
ENST00000683887.1:c.574+53C= ENSP00000506886.1:n.574+53C=
ENST00000684100.1:n.520+53C=
ENST00000684126.1:n.584+53C=
ENST00000684688.1:n.1151+53C=
ENST00000204679.9:c.526+53C= MANE Select ENSP00000204679.4:n.526+53C=
ENST00000204679.8:c.526+53C= ENSP00000204679.4:n.526+53C=
ENST00000527076.1:n.1595C=
ENST00000527168.5:n.615C=
ENST00000529957.5:n.625+53C=
NM_032520.4:c.526+53C= NP_115909.1:n.526+53C=
XM_017023782.1:c.574+53C= XP_016879271.1:n.574+53C=
XM_017023783.1:c.166+53C= XP_016879272.1:n.166+53C=
NM_032520.5:c.526+53C= MANE Select NP_115909.1:n.526+53C=