Canonical Allele Identifier: CA2201615485
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362923G= , CM000678.2:g.1362923G= GRCh38
NC_000016.9:g.1412924G= , CM000678.1:g.1412924G= GRCh37
NC_000016.8:g.1352925G= NCBI36
NG_016985.1:g.16025G=
NG_033129.1:g.56782C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.922+17G=
ENST00000529110.2:c.907+17G= ENSP00000435349.2:n.907+17G=
ENST00000529957.6:n.881+17G=
ENST00000683366.1:c.*555+17G= ENSP00000507283.1:n.*555+17G=
ENST00000683887.1:c.871+17G= ENSP00000506886.1:n.871+17G=
ENST00000684100.1:n.817+17G=
ENST00000684126.1:n.957+17G=
ENST00000684688.1:n.1448+17G=
ENST00000204679.9:c.823+17G= MANE Select ENSP00000204679.4:n.823+17G=
ENST00000204679.8:c.823+17G= ENSP00000204679.4:n.823+17G=
ENST00000527076.1:n.2046+17G=
ENST00000527168.5:n.990+17G=
NM_032520.4:c.823+17G= NP_115909.1:n.823+17G=
XM_017023782.1:c.871+17G= XP_016879271.1:n.871+17G=
XM_017023783.1:c.463+17G= XP_016879272.1:n.463+17G=
NM_032520.5:c.823+17G= MANE Select NP_115909.1:n.823+17G=