Canonical Allele Identifier: CA2201615068
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362354G= , CM000678.2:g.1362354G= GRCh38
NC_000016.9:g.1412355G= , CM000678.1:g.1412355G= GRCh37
NC_000016.8:g.1352356G= NCBI36
NG_016985.1:g.15456G=
NG_033129.1:g.57351C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.625+34G=
ENST00000529110.2:c.610+34G= ENSP00000435349.2:n.610+34G=
ENST00000529957.6:n.584+34G=
ENST00000683366.1:c.*258+34G= ENSP00000507283.1:n.*258+34G=
ENST00000683887.1:c.574+34G= ENSP00000506886.1:n.574+34G=
ENST00000684100.1:n.520+34G=
ENST00000684126.1:n.584+34G=
ENST00000684688.1:n.1151+34G=
ENST00000204679.9:c.526+34G= MANE Select ENSP00000204679.4:n.526+34G=
ENST00000204679.8:c.526+34G= ENSP00000204679.4:n.526+34G=
ENST00000527076.1:n.1576G=
ENST00000527168.5:n.596G=
ENST00000529957.5:n.625+34G=
NM_032520.4:c.526+34G= NP_115909.1:n.526+34G=
XM_017023782.1:c.574+34G= XP_016879271.1:n.574+34G=
XM_017023783.1:c.166+34G= XP_016879272.1:n.166+34G=
NM_032520.5:c.526+34G= MANE Select NP_115909.1:n.526+34G=