Canonical Allele Identifier: CA2201615430
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362849A= , CM000678.2:g.1362849A= GRCh38
NC_000016.9:g.1412850A= , CM000678.1:g.1412850A= GRCh37
NC_000016.8:g.1352851A= NCBI36
NG_016985.1:g.15951A=
NG_033129.1:g.56856T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.865A=
ENST00000529110.2:c.850A= ENSP00000435349.2:p.Ile284=
ENST00000529957.6:n.824A=
ENST00000683366.1:c.*498A= ENSP00000507283.1:n.*498A=
ENST00000683887.1:c.814A= ENSP00000506886.1:p.Ile272=
ENST00000684100.1:n.760A=
ENST00000684126.1:n.900A=
ENST00000684688.1:n.1391A=
ENST00000204679.9:c.766A= MANE Select ENSP00000204679.4:p.Ile256=
ENST00000204679.8:c.766A= ENSP00000204679.4:p.Ile256=
ENST00000527076.1:n.1989A=
ENST00000527168.5:n.933A=
ENST00000529957.5:n.865A=
NM_032520.4:c.766A= NP_115909.1:p.Ile256=
XM_017023782.1:c.814A= XP_016879271.1:p.Ile272=
XM_017023783.1:c.406A= XP_016879272.1:p.Ile136=
NM_032520.5:c.766A= MANE Select NP_115909.1:p.Ile256=