Canonical Allele Identifier: CA2201614971
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362254C= , CM000678.2:g.1362254C= GRCh38
NC_000016.9:g.1412255C= , CM000678.1:g.1412255C= GRCh37
NC_000016.8:g.1352256C= NCBI36
NG_016985.1:g.15356C=
NG_033129.1:g.57451G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.559C=
ENST00000529110.2:c.544C= ENSP00000435349.2:p.Pro182=
ENST00000529957.6:n.518C=
ENST00000683366.1:c.*192C= ENSP00000507283.1:n.*192C=
ENST00000683887.1:c.508C= ENSP00000506886.1:p.Pro170=
ENST00000684100.1:n.454C=
ENST00000684126.1:n.518C=
ENST00000684688.1:n.1085C=
ENST00000204679.9:c.460C= MANE Select ENSP00000204679.4:p.Pro154=
ENST00000204679.8:c.460C= ENSP00000204679.4:p.Pro154=
ENST00000527076.1:n.1476C=
ENST00000527168.5:n.496C=
ENST00000529110.1:c.527C=
ENST00000529957.5:n.559C=
NM_032520.4:c.460C= NP_115909.1:p.Pro154=
XM_017023782.1:c.508C= XP_016879271.1:p.Pro170=
XM_017023783.1:c.100C= XP_016879272.1:p.Pro34=
NM_032520.5:c.460C= MANE Select NP_115909.1:p.Pro154=