Canonical Allele Identifier: CA2201614907
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362234G= , CM000678.2:g.1362234G= GRCh38
NC_000016.9:g.1412235G= , CM000678.1:g.1412235G= GRCh37
NC_000016.8:g.1352236G= NCBI36
NG_016985.1:g.15336G=
NG_033129.1:g.57471C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.539G=
ENST00000529110.2:c.524G= ENSP00000435349.2:p.Arg175=
ENST00000529957.6:n.498G=
ENST00000683366.1:c.*172G= ENSP00000507283.1:n.*172G=
ENST00000683887.1:c.488G= ENSP00000506886.1:p.Arg163=
ENST00000684100.1:n.434G=
ENST00000684126.1:n.498G=
ENST00000684688.1:n.1065G=
ENST00000204679.9:c.440G= MANE Select ENSP00000204679.4:p.Arg147=
ENST00000204679.8:c.440G= ENSP00000204679.4:p.Arg147=
ENST00000527076.1:n.1456G=
ENST00000527168.5:n.476G=
ENST00000529110.1:c.507G=
ENST00000529957.5:n.539G=
NM_032520.4:c.440G= NP_115909.1:p.Arg147=
XM_017023782.1:c.488G= XP_016879271.1:p.Arg163=
XM_017023783.1:c.80G= XP_016879272.1:p.Arg27=
NM_032520.5:c.440G= MANE Select NP_115909.1:p.Arg147=