Canonical Allele Identifier: CA2201615476
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362912T= , CM000678.2:g.1362912T= GRCh38
NC_000016.9:g.1412913T= , CM000678.1:g.1412913T= GRCh37
NC_000016.8:g.1352914T= NCBI36
NG_016985.1:g.16014T=
NG_033129.1:g.56793A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.922+6T=
ENST00000529110.2:c.907+6T= ENSP00000435349.2:n.907+6T=
ENST00000529957.6:n.881+6T=
ENST00000683366.1:c.*555+6T= ENSP00000507283.1:n.*555+6T=
ENST00000683887.1:c.871+6T= ENSP00000506886.1:n.871+6T=
ENST00000684100.1:n.817+6T=
ENST00000684126.1:n.957+6T=
ENST00000684688.1:n.1448+6T=
ENST00000204679.9:c.823+6T= MANE Select ENSP00000204679.4:n.823+6T=
ENST00000204679.8:c.823+6T= ENSP00000204679.4:n.823+6T=
ENST00000527076.1:n.2046+6T=
ENST00000527168.5:n.990+6T=
NM_032520.4:c.823+6T= NP_115909.1:n.823+6T=
XM_017023782.1:c.871+6T= XP_016879271.1:n.871+6T=
XM_017023783.1:c.463+6T= XP_016879272.1:n.463+6T=
NM_032520.5:c.823+6T= MANE Select NP_115909.1:n.823+6T=