Canonical Allele Identifier: CA2201615004
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362270A= , CM000678.2:g.1362270A= GRCh38
NC_000016.9:g.1412271A= , CM000678.1:g.1412271A= GRCh37
NC_000016.8:g.1352272A= NCBI36
NG_016985.1:g.15372A=
NG_033129.1:g.57435T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.575A=
ENST00000529110.2:c.560A= ENSP00000435349.2:p.Tyr187=
ENST00000529957.6:n.534A=
ENST00000683366.1:c.*208A= ENSP00000507283.1:n.*208A=
ENST00000683887.1:c.524A= ENSP00000506886.1:p.Tyr175=
ENST00000684100.1:n.470A=
ENST00000684126.1:n.534A=
ENST00000684688.1:n.1101A=
ENST00000204679.9:c.476A= MANE Select ENSP00000204679.4:p.Tyr159=
ENST00000204679.8:c.476A= ENSP00000204679.4:p.Tyr159=
ENST00000527076.1:n.1492A=
ENST00000527168.5:n.512A=
ENST00000529110.1:c.543A=
ENST00000529957.5:n.575A=
NM_032520.4:c.476A= NP_115909.1:p.Tyr159=
XM_017023782.1:c.524A= XP_016879271.1:p.Tyr175=
XM_017023783.1:c.116A= XP_016879272.1:p.Tyr39=
NM_032520.5:c.476A= MANE Select NP_115909.1:p.Tyr159=