Canonical Allele Identifier: CA2201614215
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1361932G= , CM000678.2:g.1361932G= GRCh38
NC_000016.9:g.1411933G= , CM000678.1:g.1411933G= GRCh37
NC_000016.8:g.1351934G= NCBI36
NG_016985.1:g.15034G=
NG_033129.1:g.57773C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.393G=
ENST00000529110.2:c.378G= ENSP00000435349.2:p.Trp126=
ENST00000529957.6:n.352G=
ENST00000683366.1:c.*26G= ENSP00000507283.1:n.*26G=
ENST00000683887.1:c.342G= ENSP00000506886.1:p.Trp114=
ENST00000684100.1:n.288G=
ENST00000684126.1:n.352G=
ENST00000684688.1:n.919G=
ENST00000204679.9:c.294G= MANE Select ENSP00000204679.4:p.Trp98=
ENST00000204679.8:c.294G= ENSP00000204679.4:p.Trp98=
ENST00000526820.5:c.*196G= ENSP00000434413.1:n.*196G=
ENST00000527076.1:n.1310G=
ENST00000527168.5:n.330G=
ENST00000529110.1:c.361G=
ENST00000529957.5:n.393G=
NM_032520.4:c.294G= NP_115909.1:p.Trp98=
XM_017023782.1:c.342G= XP_016879271.1:p.Trp114=
XM_017023783.1:c.-67G= XP_016879272.1:n.-67G=
NM_032520.5:c.294G= MANE Select NP_115909.1:p.Trp98=