Canonical Allele Identifier: CA394188726
Gene: GNPTG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362855A>G , CM000678.2:g.1362855A>G GRCh38
NC_000016.9:g.1412856A>G , CM000678.1:g.1412856A>G GRCh37
NC_000016.8:g.1352857A>G NCBI36
NG_016985.1:g.15957A>G
NG_033129.1:g.56850T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.871A>G
ENST00000529110.2:c.856A>G ENSP00000435349.2:p.Arg286Gly
ENST00000529957.6:n.830A>G
ENST00000683366.1:c.*504A>G ENSP00000507283.1:n.*504A>G
ENST00000683887.1:c.820A>G ENSP00000506886.1:p.Arg274Gly
ENST00000684100.1:n.766A>G
ENST00000684126.1:n.906A>G
ENST00000684688.1:n.1397A>G
ENST00000204679.9:c.772A>G MANE Select ENSP00000204679.4:p.Arg258Gly
ENST00000204679.8:c.772A>G ENSP00000204679.4:p.Arg258Gly
ENST00000527076.1:n.1995A>G
ENST00000527168.5:n.939A>G
ENST00000529957.5:n.871A>G
NM_032520.4:c.772A>G NP_115909.1:p.Arg258Gly
XM_017023782.1:c.820A>G XP_016879271.1:p.Arg274Gly
XM_017023783.1:c.412A>G XP_016879272.1:p.Arg138Gly
NM_032520.5:c.772A>G MANE Select NP_115909.1:p.Arg258Gly