Canonical Allele Identifier: CA2201614157
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1361915G= , CM000678.2:g.1361915G= GRCh38
NC_000016.9:g.1411916G= , CM000678.1:g.1411916G= GRCh37
NC_000016.8:g.1351917G= NCBI36
NG_016985.1:g.15017G=
NG_033129.1:g.57790C=

Transcript Alleles

HGVS Amino-acid change
ENST00000527168.6:n.376G=
ENST00000529110.2:c.361G= ENSP00000435349.2:p.Glu121=
ENST00000529957.6:n.335G=
ENST00000683366.1:c.*9G= ENSP00000507283.1:n.*9G=
ENST00000683887.1:c.325G= ENSP00000506886.1:p.Glu109=
ENST00000684100.1:n.271G=
ENST00000684126.1:n.335G=
ENST00000684688.1:n.902G=
ENST00000204679.9:c.277G= MANE Select ENSP00000204679.4:p.Glu93=
ENST00000204679.8:c.277G= ENSP00000204679.4:p.Glu93=
ENST00000526820.5:c.*179G= ENSP00000434413.1:n.*179G=
ENST00000527076.1:n.1293G=
ENST00000527168.5:n.313G=
ENST00000529110.1:c.344G=
ENST00000529957.5:n.376G=
NM_032520.4:c.277G= NP_115909.1:p.Glu93=
XM_017023782.1:c.325G= XP_016879271.1:p.Glu109=
XM_017023783.1:c.-84G= XP_016879272.1:n.-84G=
NM_032520.5:c.277G= MANE Select NP_115909.1:p.Glu93=