Canonical Allele Identifier: CA394187900
Gene: GNPTG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362285A>G , CM000678.2:g.1362285A>G GRCh38
NC_000016.9:g.1412286A>G , CM000678.1:g.1412286A>G GRCh37
NC_000016.8:g.1352287A>G NCBI36
NG_016985.1:g.15387A>G
NG_033129.1:g.57420T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.590A>G
ENST00000529110.2:c.575A>G ENSP00000435349.2:p.Glu192Gly
ENST00000529957.6:n.549A>G
ENST00000683366.1:c.*223A>G ENSP00000507283.1:n.*223A>G
ENST00000683887.1:c.539A>G ENSP00000506886.1:p.Glu180Gly
ENST00000684100.1:n.485A>G
ENST00000684126.1:n.549A>G
ENST00000684688.1:n.1116A>G
ENST00000204679.9:c.491A>G MANE Select ENSP00000204679.4:p.Glu164Gly
ENST00000204679.8:c.491A>G ENSP00000204679.4:p.Glu164Gly
ENST00000527076.1:n.1507A>G
ENST00000527168.5:n.527A>G
ENST00000529957.5:n.590A>G
NM_032520.4:c.491A>G NP_115909.1:p.Glu164Gly
XM_017023782.1:c.539A>G XP_016879271.1:p.Glu180Gly
XM_017023783.1:c.131A>G XP_016879272.1:p.Glu44Gly
NM_032520.5:c.491A>G MANE Select NP_115909.1:p.Glu164Gly