Canonical Allele Identifier: CA2201615048
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362327G= , CM000678.2:g.1362327G= GRCh38
NC_000016.9:g.1412328G= , CM000678.1:g.1412328G= GRCh37
NC_000016.8:g.1352329G= NCBI36
NG_016985.1:g.15429G=
NG_033129.1:g.57378C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.625+7G=
ENST00000529110.2:c.610+7G= ENSP00000435349.2:n.610+7G=
ENST00000529957.6:n.584+7G=
ENST00000683366.1:c.*258+7G= ENSP00000507283.1:n.*258+7G=
ENST00000683887.1:c.574+7G= ENSP00000506886.1:n.574+7G=
ENST00000684100.1:n.520+7G=
ENST00000684126.1:n.584+7G=
ENST00000684688.1:n.1151+7G=
ENST00000204679.9:c.526+7G= MANE Select ENSP00000204679.4:n.526+7G=
ENST00000204679.8:c.526+7G= ENSP00000204679.4:n.526+7G=
ENST00000527076.1:n.1549G=
ENST00000527168.5:n.569G=
ENST00000529957.5:n.625+7G=
NM_032520.4:c.526+7G= NP_115909.1:n.526+7G=
XM_017023782.1:c.574+7G= XP_016879271.1:n.574+7G=
XM_017023783.1:c.166+7G= XP_016879272.1:n.166+7G=
NM_032520.5:c.526+7G= MANE Select NP_115909.1:n.526+7G=