Canonical Allele Identifier: CA2201615119
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362414T= , CM000678.2:g.1362414T= GRCh38
NC_000016.9:g.1412415T= , CM000678.1:g.1412415T= GRCh37
NC_000016.8:g.1352416T= NCBI36
NG_016985.1:g.15516T=
NG_033129.1:g.57291A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.626-38T=
ENST00000529110.2:c.611-38T= ENSP00000435349.2:n.611-38T=
ENST00000529957.6:n.585-38T=
ENST00000683366.1:c.*259-38T= ENSP00000507283.1:n.*259-38T=
ENST00000683887.1:c.575-38T= ENSP00000506886.1:n.575-38T=
ENST00000684100.1:n.521-38T=
ENST00000684126.1:n.585-38T=
ENST00000684688.1:n.1152-38T=
ENST00000204679.9:c.527-38T= MANE Select ENSP00000204679.4:n.527-38T=
ENST00000204679.8:c.527-38T= ENSP00000204679.4:n.527-38T=
ENST00000527076.1:n.1636T=
ENST00000527168.5:n.656T=
ENST00000529957.5:n.626-38T=
NM_032520.4:c.527-38T= NP_115909.1:n.527-38T=
XM_017023782.1:c.575-38T= XP_016879271.1:n.575-38T=
XM_017023783.1:c.167-38T= XP_016879272.1:n.167-38T=
NM_032520.5:c.527-38T= MANE Select NP_115909.1:n.527-38T=