Canonical Allele Identifier: CA2201615049
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362328T= , CM000678.2:g.1362328T= GRCh38
NC_000016.9:g.1412329T= , CM000678.1:g.1412329T= GRCh37
NC_000016.8:g.1352330T= NCBI36
NG_016985.1:g.15430T=
NG_033129.1:g.57377A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.625+8T=
ENST00000529110.2:c.610+8T= ENSP00000435349.2:n.610+8T=
ENST00000529957.6:n.584+8T=
ENST00000683366.1:c.*258+8T= ENSP00000507283.1:n.*258+8T=
ENST00000683887.1:c.574+8T= ENSP00000506886.1:n.574+8T=
ENST00000684100.1:n.520+8T=
ENST00000684126.1:n.584+8T=
ENST00000684688.1:n.1151+8T=
ENST00000204679.9:c.526+8T= MANE Select ENSP00000204679.4:n.526+8T=
ENST00000204679.8:c.526+8T= ENSP00000204679.4:n.526+8T=
ENST00000527076.1:n.1550T=
ENST00000527168.5:n.570T=
ENST00000529957.5:n.625+8T=
NM_032520.4:c.526+8T= NP_115909.1:n.526+8T=
XM_017023782.1:c.574+8T= XP_016879271.1:n.574+8T=
XM_017023783.1:c.166+8T= XP_016879272.1:n.166+8T=
NM_032520.5:c.526+8T= MANE Select NP_115909.1:n.526+8T=