Canonical Allele Identifier: CA2201615070
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362356C= , CM000678.2:g.1362356C= GRCh38
NC_000016.9:g.1412357C= , CM000678.1:g.1412357C= GRCh37
NC_000016.8:g.1352358C= NCBI36
NG_016985.1:g.15458C=
NG_033129.1:g.57349G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.625+36C=
ENST00000529110.2:c.610+36C= ENSP00000435349.2:n.610+36C=
ENST00000529957.6:n.584+36C=
ENST00000683366.1:c.*258+36C= ENSP00000507283.1:n.*258+36C=
ENST00000683887.1:c.574+36C= ENSP00000506886.1:n.574+36C=
ENST00000684100.1:n.520+36C=
ENST00000684126.1:n.584+36C=
ENST00000684688.1:n.1151+36C=
ENST00000204679.9:c.526+36C= MANE Select ENSP00000204679.4:n.526+36C=
ENST00000204679.8:c.526+36C= ENSP00000204679.4:n.526+36C=
ENST00000527076.1:n.1578C=
ENST00000527168.5:n.598C=
ENST00000529957.5:n.625+36C=
NM_032520.4:c.526+36C= NP_115909.1:n.526+36C=
XM_017023782.1:c.574+36C= XP_016879271.1:n.574+36C=
XM_017023783.1:c.166+36C= XP_016879272.1:n.166+36C=
NM_032520.5:c.526+36C= MANE Select NP_115909.1:n.526+36C=