Canonical Allele Identifier: CA2201614920
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362239G= , CM000678.2:g.1362239G= GRCh38
NC_000016.9:g.1412240G= , CM000678.1:g.1412240G= GRCh37
NC_000016.8:g.1352241G= NCBI36
NG_016985.1:g.15341G=
NG_033129.1:g.57466C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.544G=
ENST00000529110.2:c.529G= ENSP00000435349.2:p.Ala177=
ENST00000529957.6:n.503G=
ENST00000683366.1:c.*177G= ENSP00000507283.1:n.*177G=
ENST00000683887.1:c.493G= ENSP00000506886.1:p.Ala165=
ENST00000684100.1:n.439G=
ENST00000684126.1:n.503G=
ENST00000684688.1:n.1070G=
ENST00000204679.9:c.445G= MANE Select ENSP00000204679.4:p.Ala149=
ENST00000204679.8:c.445G= ENSP00000204679.4:p.Ala149=
ENST00000527076.1:n.1461G=
ENST00000527168.5:n.481G=
ENST00000529110.1:c.512G=
ENST00000529957.5:n.544G=
NM_032520.4:c.445G= NP_115909.1:p.Ala149=
XM_017023782.1:c.493G= XP_016879271.1:p.Ala165=
XM_017023783.1:c.85G= XP_016879272.1:p.Ala29=
NM_032520.5:c.445G= MANE Select NP_115909.1:p.Ala149=