Canonical Allele Identifier: CA2201615113
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362404G= , CM000678.2:g.1362404G= GRCh38
NC_000016.9:g.1412405G= , CM000678.1:g.1412405G= GRCh37
NC_000016.8:g.1352406G= NCBI36
NG_016985.1:g.15506G=
NG_033129.1:g.57301C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.626-48G=
ENST00000529110.2:c.611-48G= ENSP00000435349.2:n.611-48G=
ENST00000529957.6:n.585-48G=
ENST00000683366.1:c.*259-48G= ENSP00000507283.1:n.*259-48G=
ENST00000683887.1:c.575-48G= ENSP00000506886.1:n.575-48G=
ENST00000684100.1:n.521-48G=
ENST00000684126.1:n.585-48G=
ENST00000684688.1:n.1152-48G=
ENST00000204679.9:c.527-48G= MANE Select ENSP00000204679.4:n.527-48G=
ENST00000204679.8:c.527-48G= ENSP00000204679.4:n.527-48G=
ENST00000527076.1:n.1626G=
ENST00000527168.5:n.646G=
ENST00000529957.5:n.626-48G=
NM_032520.4:c.527-48G= NP_115909.1:n.527-48G=
XM_017023782.1:c.575-48G= XP_016879271.1:n.575-48G=
XM_017023783.1:c.167-48G= XP_016879272.1:n.167-48G=
NM_032520.5:c.527-48G= MANE Select NP_115909.1:n.527-48G=