Canonical Allele Identifier: CA2201614469
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362043G= , CM000678.2:g.1362043G= GRCh38
NC_000016.9:g.1412044G= , CM000678.1:g.1412044G= GRCh37
NC_000016.8:g.1352045G= NCBI36
NG_016985.1:g.15145G=
NG_033129.1:g.57662C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.422G=
ENST00000529110.2:c.407G= ENSP00000435349.2:p.Trp136=
ENST00000529957.6:n.381G=
ENST00000683366.1:c.*55G= ENSP00000507283.1:n.*55G=
ENST00000683887.1:c.371G= ENSP00000506886.1:p.Trp124=
ENST00000684100.1:n.317G=
ENST00000684126.1:n.381G=
ENST00000684688.1:n.948G=
ENST00000204679.9:c.323G= MANE Select ENSP00000204679.4:p.Trp108=
ENST00000204679.8:c.323G= ENSP00000204679.4:p.Trp108=
ENST00000526820.5:c.*225G= ENSP00000434413.1:n.*225G=
ENST00000527076.1:n.1339G=
ENST00000527168.5:n.359G=
ENST00000529110.1:c.390G=
ENST00000529957.5:n.422G=
NM_032520.4:c.323G= NP_115909.1:p.Trp108=
XM_017023782.1:c.371G= XP_016879271.1:p.Trp124=
XM_017023783.1:c.-38G= XP_016879272.1:n.-38G=
NM_032520.5:c.323G= MANE Select NP_115909.1:p.Trp108=