Canonical Allele Identifier: CA2201614170
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1361920G= , CM000678.2:g.1361920G= GRCh38
NC_000016.9:g.1411921G= , CM000678.1:g.1411921G= GRCh37
NC_000016.8:g.1351922G= NCBI36
NG_016985.1:g.15022G=
NG_033129.1:g.57785C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.381G=
ENST00000529110.2:c.366G= ENSP00000435349.2:p.Gln122=
ENST00000529957.6:n.340G=
ENST00000683366.1:c.*14G= ENSP00000507283.1:n.*14G=
ENST00000683887.1:c.330G= ENSP00000506886.1:p.Gln110=
ENST00000684100.1:n.276G=
ENST00000684126.1:n.340G=
ENST00000684688.1:n.907G=
ENST00000204679.9:c.282G= MANE Select ENSP00000204679.4:p.Gln94=
ENST00000204679.8:c.282G= ENSP00000204679.4:p.Gln94=
ENST00000526820.5:c.*184G= ENSP00000434413.1:n.*184G=
ENST00000527076.1:n.1298G=
ENST00000527168.5:n.318G=
ENST00000529110.1:c.349G=
ENST00000529957.5:n.381G=
NM_032520.4:c.282G= NP_115909.1:p.Gln94=
XM_017023782.1:c.330G= XP_016879271.1:p.Gln110=
XM_017023783.1:c.-79G= XP_016879272.1:n.-79G=
NM_032520.5:c.282G= MANE Select NP_115909.1:p.Gln94=