Canonical Allele Identifier: CA2201615567
Community Standard Title: NM_032520.5(GNPTG):c.857C= (p.Thr286=)
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1363030C= , CM000678.2:g.1363030C= GRCh38
NC_000016.9:g.1413031C= , CM000678.1:g.1413031C= GRCh37
NC_000016.8:g.1353032C= NCBI36
NG_016985.1:g.16132C=
NG_033129.1:g.56675G=

Transcript Alleles

HGVS Amino-acid Change
NM_032520.5:c.857C= MANE Select NP_115909.1:p.Thr286=
ENST00000204679.9:c.857C= MANE Select ENSP00000204679.4:p.Thr286=
NM_032520.4:c.857C= NP_115909.1:p.Thr286=
ENST00000204679.8:c.857C= ENSP00000204679.4:p.Thr286=
ENST00000527076.1:n.2080C=
ENST00000527168.5:n.1024C=
ENST00000527168.6:n.956C=
ENST00000529110.2:c.941C= ENSP00000435349.2:p.Thr314=
ENST00000529957.6:n.915C=
ENST00000683366.1:c.*589C= ENSP00000507283.1:n.*589C=
ENST00000683887.1:c.905C= ENSP00000506886.1:p.Thr302=
ENST00000684100.1:n.851C=
ENST00000684126.1:n.991C=
ENST00000684688.1:n.1482C=
XM_017023782.1:c.905C= XP_016879271.1:p.Thr302=
XM_017023783.1:c.497C= XP_016879272.1:p.Thr166=