Canonical Allele Identifier: CA2201614550
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362063A= , CM000678.2:g.1362063A= GRCh38
NC_000016.9:g.1412064A= , CM000678.1:g.1412064A= GRCh37
NC_000016.8:g.1352065A= NCBI36
NG_016985.1:g.15165A=
NG_033129.1:g.57642T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.442A=
ENST00000529110.2:c.427A= ENSP00000435349.2:p.Asn143=
ENST00000529957.6:n.401A=
ENST00000683366.1:c.*75A= ENSP00000507283.1:n.*75A=
ENST00000683887.1:c.391A= ENSP00000506886.1:p.Asn131=
ENST00000684100.1:n.337A=
ENST00000684126.1:n.401A=
ENST00000684688.1:n.968A=
ENST00000204679.9:c.343A= MANE Select ENSP00000204679.4:p.Asn115=
ENST00000204679.8:c.343A= ENSP00000204679.4:p.Asn115=
ENST00000526820.5:c.*245A= ENSP00000434413.1:n.*245A=
ENST00000527076.1:n.1359A=
ENST00000527168.5:n.379A=
ENST00000529110.1:c.410A=
ENST00000529957.5:n.442A=
NM_032520.4:c.343A= NP_115909.1:p.Asn115=
XM_017023782.1:c.391A= XP_016879271.1:p.Asn131=
XM_017023783.1:c.-18A= XP_016879272.1:n.-18A=
NM_032520.5:c.343A= MANE Select NP_115909.1:p.Asn115=