Canonical Allele Identifier: CA2201614094
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1361893G= , CM000678.2:g.1361893G= GRCh38
NC_000016.9:g.1411894G= , CM000678.1:g.1411894G= GRCh37
NC_000016.8:g.1351895G= NCBI36
NG_016985.1:g.14995G=
NG_033129.1:g.57812C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.354G=
ENST00000529110.2:c.339G= ENSP00000435349.2:p.Pro113=
ENST00000529957.6:n.313G=
ENST00000683366.1:c.200G= ENSP00000507283.1:p.Arg67=
ENST00000683887.1:c.303G= ENSP00000506886.1:p.Pro101=
ENST00000684100.1:n.249G=
ENST00000684126.1:n.313G=
ENST00000684688.1:n.880G=
ENST00000204679.9:c.255G= MANE Select ENSP00000204679.4:p.Pro85=
ENST00000204679.8:c.255G= ENSP00000204679.4:p.Pro85=
ENST00000526820.5:c.*157G= ENSP00000434413.1:n.*157G=
ENST00000527076.1:n.1271G=
ENST00000527168.5:n.291G=
ENST00000529110.1:c.322G=
ENST00000529957.5:n.354G=
NM_032520.4:c.255G= NP_115909.1:p.Pro85=
XM_017023782.1:c.303G= XP_016879271.1:p.Pro101=
XM_017023783.1:c.-106G= XP_016879272.1:n.-106G=
NM_032520.5:c.255G= MANE Select NP_115909.1:p.Pro85=