Canonical Allele Identifier: CA2201614955
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362247G= , CM000678.2:g.1362247G= GRCh38
NC_000016.9:g.1412248G= , CM000678.1:g.1412248G= GRCh37
NC_000016.8:g.1352249G= NCBI36
NG_016985.1:g.15349G=
NG_033129.1:g.57458C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.552G=
ENST00000529110.2:c.537G= ENSP00000435349.2:p.Val179=
ENST00000529957.6:n.511G=
ENST00000683366.1:c.*185G= ENSP00000507283.1:n.*185G=
ENST00000683887.1:c.501G= ENSP00000506886.1:p.Val167=
ENST00000684100.1:n.447G=
ENST00000684126.1:n.511G=
ENST00000684688.1:n.1078G=
ENST00000204679.9:c.453G= MANE Select ENSP00000204679.4:p.Val151=
ENST00000204679.8:c.453G= ENSP00000204679.4:p.Val151=
ENST00000527076.1:n.1469G=
ENST00000527168.5:n.489G=
ENST00000529110.1:c.520G=
ENST00000529957.5:n.552G=
NM_032520.4:c.453G= NP_115909.1:p.Val151=
XM_017023782.1:c.501G= XP_016879271.1:p.Val167=
XM_017023783.1:c.93G= XP_016879272.1:p.Val31=
NM_032520.5:c.453G= MANE Select NP_115909.1:p.Val151=