Canonical Allele Identifier: CA2201614556
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362064A= , CM000678.2:g.1362064A= GRCh38
NC_000016.9:g.1412065A= , CM000678.1:g.1412065A= GRCh37
NC_000016.8:g.1352066A= NCBI36
NG_016985.1:g.15166A=
NG_033129.1:g.57641T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.443A=
ENST00000529110.2:c.428A= ENSP00000435349.2:p.Asn143=
ENST00000529957.6:n.402A=
ENST00000683366.1:c.*76A= ENSP00000507283.1:n.*76A=
ENST00000683887.1:c.392A= ENSP00000506886.1:p.Asn131=
ENST00000684100.1:n.338A=
ENST00000684126.1:n.402A=
ENST00000684688.1:n.969A=
ENST00000204679.9:c.344A= MANE Select ENSP00000204679.4:p.Asn115=
ENST00000204679.8:c.344A= ENSP00000204679.4:p.Asn115=
ENST00000526820.5:c.*246A= ENSP00000434413.1:n.*246A=
ENST00000527076.1:n.1360A=
ENST00000527168.5:n.380A=
ENST00000529110.1:c.411A=
ENST00000529957.5:n.443A=
NM_032520.4:c.344A= NP_115909.1:p.Asn115=
XM_017023782.1:c.392A= XP_016879271.1:p.Asn131=
XM_017023783.1:c.-17A= XP_016879272.1:n.-17A=
NM_032520.5:c.344A= MANE Select NP_115909.1:p.Asn115=