Canonical Allele Identifier: CA2201613752
Community Standard Title: NM_032520.5(GNPTG):c.196C= (p.Arg66=)
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1361760C= , CM000678.2:g.1361760C= GRCh38
NC_000016.9:g.1411761C= , CM000678.1:g.1411761C= GRCh37
NC_000016.8:g.1351762C= NCBI36
NG_016985.1:g.14862C=
NG_033129.1:g.57945G=

Transcript Alleles

HGVS Amino-acid Change
NM_032520.5:c.196C= MANE Select NP_115909.1:p.Arg66=
ENST00000204679.9:c.196C= MANE Select ENSP00000204679.4:p.Arg66=
NM_032520.4:c.196C= NP_115909.1:p.Arg66=
ENST00000204679.8:c.196C= ENSP00000204679.4:p.Arg66=
ENST00000526820.5:c.*98C= ENSP00000434413.1:n.*98C=
ENST00000527076.1:n.1138C=
ENST00000527168.5:n.270-112C=
ENST00000527168.6:n.295C=
ENST00000529110.1:c.263C=
ENST00000529110.2:c.280C= ENSP00000435349.2:p.Arg94=
ENST00000529957.5:n.295C=
ENST00000529957.6:n.254C=
ENST00000683366.1:c.179-112C= ENSP00000507283.1:n.179-112C=
ENST00000683887.1:c.244C= ENSP00000506886.1:p.Arg82=
ENST00000684100.1:n.116C=
ENST00000684126.1:n.254C=
ENST00000684688.1:n.821C=
XM_017023782.1:c.244C= XP_016879271.1:p.Arg82=
XM_017023783.1:c.-165C= XP_016879272.1:n.-165C=