Canonical Allele Identifier: CA2201614041
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1361873T= , CM000678.2:g.1361873T= GRCh38
NC_000016.9:g.1411874T= , CM000678.1:g.1411874T= GRCh37
NC_000016.8:g.1351875T= NCBI36
NG_016985.1:g.14975T=
NG_033129.1:g.57832A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.334T=
ENST00000529110.2:c.319T= ENSP00000435349.2:p.Tyr107=
ENST00000529957.6:n.293T=
ENST00000683366.1:c.180T= ENSP00000507283.1:p.Gly60=
ENST00000683887.1:c.283T= ENSP00000506886.1:p.Tyr95=
ENST00000684100.1:n.229T=
ENST00000684126.1:n.293T=
ENST00000684688.1:n.860T=
ENST00000204679.9:c.235T= MANE Select ENSP00000204679.4:p.Tyr79=
ENST00000204679.8:c.235T= ENSP00000204679.4:p.Tyr79=
ENST00000526820.5:c.*137T= ENSP00000434413.1:n.*137T=
ENST00000527076.1:n.1251T=
ENST00000527168.5:n.271T=
ENST00000529110.1:c.302T=
ENST00000529957.5:n.334T=
NM_032520.4:c.235T= NP_115909.1:p.Tyr79=
XM_017023782.1:c.283T= XP_016879271.1:p.Tyr95=
XM_017023783.1:c.-126T= XP_016879272.1:n.-126T=
NM_032520.5:c.235T= MANE Select NP_115909.1:p.Tyr79=