Canonical Allele Identifier: CA2201615487
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362926A= , CM000678.2:g.1362926A= GRCh38
NC_000016.9:g.1412927A= , CM000678.1:g.1412927A= GRCh37
NC_000016.8:g.1352928A= NCBI36
NG_016985.1:g.16028A=
NG_033129.1:g.56779T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.922+20A=
ENST00000529110.2:c.907+20A= ENSP00000435349.2:n.907+20A=
ENST00000529957.6:n.881+20A=
ENST00000683366.1:c.*555+20A= ENSP00000507283.1:n.*555+20A=
ENST00000683887.1:c.871+20A= ENSP00000506886.1:n.871+20A=
ENST00000684100.1:n.817+20A=
ENST00000684126.1:n.957+20A=
ENST00000684688.1:n.1448+20A=
ENST00000204679.9:c.823+20A= MANE Select ENSP00000204679.4:n.823+20A=
ENST00000204679.8:c.823+20A= ENSP00000204679.4:n.823+20A=
ENST00000527076.1:n.2046+20A=
ENST00000527168.5:n.990+20A=
NM_032520.4:c.823+20A= NP_115909.1:n.823+20A=
XM_017023782.1:c.871+20A= XP_016879271.1:n.871+20A=
XM_017023783.1:c.463+20A= XP_016879272.1:n.463+20A=
NM_032520.5:c.823+20A= MANE Select NP_115909.1:n.823+20A=