Canonical Allele Identifier: CA2201615066
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362350T= , CM000678.2:g.1362350T= GRCh38
NC_000016.9:g.1412351T= , CM000678.1:g.1412351T= GRCh37
NC_000016.8:g.1352352T= NCBI36
NG_016985.1:g.15452T=
NG_033129.1:g.57355A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.625+30T=
ENST00000529110.2:c.610+30T= ENSP00000435349.2:n.610+30T=
ENST00000529957.6:n.584+30T=
ENST00000683366.1:c.*258+30T= ENSP00000507283.1:n.*258+30T=
ENST00000683887.1:c.574+30T= ENSP00000506886.1:n.574+30T=
ENST00000684100.1:n.520+30T=
ENST00000684126.1:n.584+30T=
ENST00000684688.1:n.1151+30T=
ENST00000204679.9:c.526+30T= MANE Select ENSP00000204679.4:n.526+30T=
ENST00000204679.8:c.526+30T= ENSP00000204679.4:n.526+30T=
ENST00000527076.1:n.1572T=
ENST00000527168.5:n.592T=
ENST00000529957.5:n.625+30T=
NM_032520.4:c.526+30T= NP_115909.1:n.526+30T=
XM_017023782.1:c.574+30T= XP_016879271.1:n.574+30T=
XM_017023783.1:c.166+30T= XP_016879272.1:n.166+30T=
NM_032520.5:c.526+30T= MANE Select NP_115909.1:n.526+30T=