Canonical Allele Identifier: CA2201614489
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362046A= , CM000678.2:g.1362046A= GRCh38
NC_000016.9:g.1412047A= , CM000678.1:g.1412047A= GRCh37
NC_000016.8:g.1352048A= NCBI36
NG_016985.1:g.15148A=
NG_033129.1:g.57659T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.425A=
ENST00000529110.2:c.410A= ENSP00000435349.2:p.His137=
ENST00000529957.6:n.384A=
ENST00000683366.1:c.*58A= ENSP00000507283.1:n.*58A=
ENST00000683887.1:c.374A= ENSP00000506886.1:p.His125=
ENST00000684100.1:n.320A=
ENST00000684126.1:n.384A=
ENST00000684688.1:n.951A=
ENST00000204679.9:c.326A= MANE Select ENSP00000204679.4:p.His109=
ENST00000204679.8:c.326A= ENSP00000204679.4:p.His109=
ENST00000526820.5:c.*228A= ENSP00000434413.1:n.*228A=
ENST00000527076.1:n.1342A=
ENST00000527168.5:n.362A=
ENST00000529110.1:c.393A=
ENST00000529957.5:n.425A=
NM_032520.4:c.326A= NP_115909.1:p.His109=
XM_017023782.1:c.374A= XP_016879271.1:p.His125=
XM_017023783.1:c.-35A= XP_016879272.1:n.-35A=
NM_032520.5:c.326A= MANE Select NP_115909.1:p.His109=