Canonical Allele Identifier: CA2201614149
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1361911G= , CM000678.2:g.1361911G= GRCh38
NC_000016.9:g.1411912G= , CM000678.1:g.1411912G= GRCh37
NC_000016.8:g.1351913G= NCBI36
NG_016985.1:g.15013G=
NG_033129.1:g.57794C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.372G=
ENST00000529110.2:c.357G= ENSP00000435349.2:p.Gln119=
ENST00000529957.6:n.331G=
ENST00000683366.1:c.*5G= ENSP00000507283.1:n.*5G=
ENST00000683887.1:c.321G= ENSP00000506886.1:p.Gln107=
ENST00000684100.1:n.267G=
ENST00000684126.1:n.331G=
ENST00000684688.1:n.898G=
ENST00000204679.9:c.273G= MANE Select ENSP00000204679.4:p.Gln91=
ENST00000204679.8:c.273G= ENSP00000204679.4:p.Gln91=
ENST00000526820.5:c.*175G= ENSP00000434413.1:n.*175G=
ENST00000527076.1:n.1289G=
ENST00000527168.5:n.309G=
ENST00000529110.1:c.340G=
ENST00000529957.5:n.372G=
NM_032520.4:c.273G= NP_115909.1:p.Gln91=
XM_017023782.1:c.321G= XP_016879271.1:p.Gln107=
XM_017023783.1:c.-88G= XP_016879272.1:n.-88G=
NM_032520.5:c.273G= MANE Select NP_115909.1:p.Gln91=