Canonical Allele Identifier: CA2201614292
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1361969G= , CM000678.2:g.1361969G= GRCh38
NC_000016.9:g.1411970G= , CM000678.1:g.1411970G= GRCh37
NC_000016.8:g.1351971G= NCBI36
NG_016985.1:g.15071G=
NG_033129.1:g.57736C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.416+14G=
ENST00000529110.2:c.401+14G= ENSP00000435349.2:n.401+14G=
ENST00000529957.6:n.375+14G=
ENST00000683366.1:c.*49+14G= ENSP00000507283.1:n.*49+14G=
ENST00000683887.1:c.365+14G= ENSP00000506886.1:n.365+14G=
ENST00000684100.1:n.311+14G=
ENST00000684126.1:n.375+14G=
ENST00000684688.1:n.942+14G=
ENST00000204679.9:c.317+14G= MANE Select ENSP00000204679.4:n.317+14G=
ENST00000204679.8:c.317+14G= ENSP00000204679.4:n.317+14G=
ENST00000526820.5:c.*219+14G= ENSP00000434413.1:n.*219+14G=
ENST00000527076.1:n.1333+14G=
ENST00000527168.5:n.353+14G=
ENST00000529110.1:c.384+14G=
ENST00000529957.5:n.416+14G=
NM_032520.4:c.317+14G= NP_115909.1:n.317+14G=
XM_017023782.1:c.365+14G= XP_016879271.1:n.365+14G=
XM_017023783.1:c.-44+14G= XP_016879272.1:n.-44+14G=
NM_032520.5:c.317+14G= MANE Select NP_115909.1:n.317+14G=