Canonical Allele Identifier: CA2201614791
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362167C= , CM000678.2:g.1362167C= GRCh38
NC_000016.9:g.1412168C= , CM000678.1:g.1412168C= GRCh37
NC_000016.8:g.1352169C= NCBI36
NG_016985.1:g.15269C=
NG_033129.1:g.57538G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.510+36C=
ENST00000529110.2:c.495+36C= ENSP00000435349.2:n.495+36C=
ENST00000529957.6:n.469+36C=
ENST00000683366.1:c.*143+36C= ENSP00000507283.1:n.*143+36C=
ENST00000683887.1:c.459+36C= ENSP00000506886.1:n.459+36C=
ENST00000684100.1:n.405+36C=
ENST00000684126.1:n.469+36C=
ENST00000684688.1:n.1036+36C=
ENST00000204679.9:c.411+36C= MANE Select ENSP00000204679.4:n.411+36C=
ENST00000204679.8:c.411+36C= ENSP00000204679.4:n.411+36C=
ENST00000527076.1:n.1427+36C=
ENST00000527168.5:n.447+36C=
ENST00000529110.1:c.478+36C=
ENST00000529957.5:n.510+36C=
NM_032520.4:c.411+36C= NP_115909.1:n.411+36C=
XM_017023782.1:c.459+36C= XP_016879271.1:n.459+36C=
XM_017023783.1:c.51+36C= XP_016879272.1:n.51+36C=
NM_032520.5:c.411+36C= MANE Select NP_115909.1:n.411+36C=