Canonical Allele Identifier: CA2201615451
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362883G= , CM000678.2:g.1362883G= GRCh38
NC_000016.9:g.1412884G= , CM000678.1:g.1412884G= GRCh37
NC_000016.8:g.1352885G= NCBI36
NG_016985.1:g.15985G=
NG_033129.1:g.56822C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.899G=
ENST00000529110.2:c.884G= ENSP00000435349.2:p.Gly295=
ENST00000529957.6:n.858G=
ENST00000683366.1:c.*532G= ENSP00000507283.1:n.*532G=
ENST00000683887.1:c.848G= ENSP00000506886.1:p.Gly283=
ENST00000684100.1:n.794G=
ENST00000684126.1:n.934G=
ENST00000684688.1:n.1425G=
ENST00000204679.9:c.800G= MANE Select ENSP00000204679.4:p.Gly267=
ENST00000204679.8:c.800G= ENSP00000204679.4:p.Gly267=
ENST00000527076.1:n.2023G=
ENST00000527168.5:n.967G=
ENST00000529957.5:n.899G=
NM_032520.4:c.800G= NP_115909.1:p.Gly267=
XM_017023782.1:c.848G= XP_016879271.1:p.Gly283=
XM_017023783.1:c.440G= XP_016879272.1:p.Gly147=
NM_032520.5:c.800G= MANE Select NP_115909.1:p.Gly267=