Canonical Allele Identifier: CA2201614981
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362257A= , CM000678.2:g.1362257A= GRCh38
NC_000016.9:g.1412258A= , CM000678.1:g.1412258A= GRCh37
NC_000016.8:g.1352259A= NCBI36
NG_016985.1:g.15359A=
NG_033129.1:g.57448T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.562A=
ENST00000529110.2:c.547A= ENSP00000435349.2:p.Ser183=
ENST00000529957.6:n.521A=
ENST00000683366.1:c.*195A= ENSP00000507283.1:n.*195A=
ENST00000683887.1:c.511A= ENSP00000506886.1:p.Ser171=
ENST00000684100.1:n.457A=
ENST00000684126.1:n.521A=
ENST00000684688.1:n.1088A=
ENST00000204679.9:c.463A= MANE Select ENSP00000204679.4:p.Ser155=
ENST00000204679.8:c.463A= ENSP00000204679.4:p.Ser155=
ENST00000527076.1:n.1479A=
ENST00000527168.5:n.499A=
ENST00000529110.1:c.530A=
ENST00000529957.5:n.562A=
NM_032520.4:c.463A= NP_115909.1:p.Ser155=
XM_017023782.1:c.511A= XP_016879271.1:p.Ser171=
XM_017023783.1:c.103A= XP_016879272.1:p.Ser35=
NM_032520.5:c.463A= MANE Select NP_115909.1:p.Ser155=