Canonical Allele Identifier: CA394187780
Gene: GNPTG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362252A>G , CM000678.2:g.1362252A>G GRCh38
NC_000016.9:g.1412253A>G , CM000678.1:g.1412253A>G GRCh37
NC_000016.8:g.1352254A>G NCBI36
NG_016985.1:g.15354A>G
NG_033129.1:g.57453T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.557A>G
ENST00000529110.2:c.542A>G ENSP00000435349.2:p.Glu181Gly
ENST00000529957.6:n.516A>G
ENST00000683366.1:c.*190A>G ENSP00000507283.1:n.*190A>G
ENST00000683887.1:c.506A>G ENSP00000506886.1:p.Glu169Gly
ENST00000684100.1:n.452A>G
ENST00000684126.1:n.516A>G
ENST00000684688.1:n.1083A>G
ENST00000204679.9:c.458A>G MANE Select ENSP00000204679.4:p.Glu153Gly
ENST00000204679.8:c.458A>G ENSP00000204679.4:p.Glu153Gly
ENST00000527076.1:n.1474A>G
ENST00000527168.5:n.494A>G
ENST00000529110.1:c.525A>G
ENST00000529957.5:n.557A>G
NM_032520.4:c.458A>G NP_115909.1:p.Glu153Gly
XM_017023782.1:c.506A>G XP_016879271.1:p.Glu169Gly
XM_017023783.1:c.98A>G XP_016879272.1:p.Glu33Gly
NM_032520.5:c.458A>G MANE Select NP_115909.1:p.Glu153Gly