Canonical Allele Identifier: CA394188326
Gene: GNPTG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362518A>G , CM000678.2:g.1362518A>G GRCh38
NC_000016.9:g.1412519A>G , CM000678.1:g.1412519A>G GRCh37
NC_000016.8:g.1352520A>G NCBI36
NG_016985.1:g.15620A>G
NG_033129.1:g.57187T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000527168.6:n.692A>G
ENST00000529110.2:c.677A>G ENSP00000435349.2:p.Glu226Gly
ENST00000529957.6:n.651A>G
ENST00000683366.1:c.*325A>G ENSP00000507283.1:n.*325A>G
ENST00000683887.1:c.641A>G ENSP00000506886.1:p.Glu214Gly
ENST00000684100.1:n.587A>G
ENST00000684126.1:n.651A>G
ENST00000684688.1:n.1218A>G
ENST00000204679.9:c.593A>G MANE Select ENSP00000204679.4:p.Glu198Gly
ENST00000204679.8:c.593A>G ENSP00000204679.4:p.Glu198Gly
ENST00000527076.1:n.1740A>G
ENST00000527168.5:n.760A>G
ENST00000529957.5:n.692A>G
NM_032520.4:c.593A>G NP_115909.1:p.Glu198Gly
XM_017023782.1:c.641A>G XP_016879271.1:p.Glu214Gly
XM_017023783.1:c.233A>G XP_016879272.1:p.Glu78Gly
NM_032520.5:c.593A>G MANE Select NP_115909.1:p.Glu198Gly