Canonical Allele Identifier: CA2201614978
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362256G= , CM000678.2:g.1362256G= GRCh38
NC_000016.9:g.1412257G= , CM000678.1:g.1412257G= GRCh37
NC_000016.8:g.1352258G= NCBI36
NG_016985.1:g.15358G=
NG_033129.1:g.57449C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.561G=
ENST00000529110.2:c.546G= ENSP00000435349.2:p.Pro182=
ENST00000529957.6:n.520G=
ENST00000683366.1:c.*194G= ENSP00000507283.1:n.*194G=
ENST00000683887.1:c.510G= ENSP00000506886.1:p.Pro170=
ENST00000684100.1:n.456G=
ENST00000684126.1:n.520G=
ENST00000684688.1:n.1087G=
ENST00000204679.9:c.462G= MANE Select ENSP00000204679.4:p.Pro154=
ENST00000204679.8:c.462G= ENSP00000204679.4:p.Pro154=
ENST00000527076.1:n.1478G=
ENST00000527168.5:n.498G=
ENST00000529110.1:c.529G=
ENST00000529957.5:n.561G=
NM_032520.4:c.462G= NP_115909.1:p.Pro154=
XM_017023782.1:c.510G= XP_016879271.1:p.Pro170=
XM_017023783.1:c.102G= XP_016879272.1:p.Pro34=
NM_032520.5:c.462G= MANE Select NP_115909.1:p.Pro154=