Canonical Allele Identifier: CA2201614933
Gene: GNPTG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1362243A= , CM000678.2:g.1362243A= GRCh38
NC_000016.9:g.1412244A= , CM000678.1:g.1412244A= GRCh37
NC_000016.8:g.1352245A= NCBI36
NG_016985.1:g.15345A=
NG_033129.1:g.57462T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000527168.6:n.548A=
ENST00000529110.2:c.533A= ENSP00000435349.2:p.His178=
ENST00000529957.6:n.507A=
ENST00000683366.1:c.*181A= ENSP00000507283.1:n.*181A=
ENST00000683887.1:c.497A= ENSP00000506886.1:p.His166=
ENST00000684100.1:n.443A=
ENST00000684126.1:n.507A=
ENST00000684688.1:n.1074A=
ENST00000204679.9:c.449A= MANE Select ENSP00000204679.4:p.His150=
ENST00000204679.8:c.449A= ENSP00000204679.4:p.His150=
ENST00000527076.1:n.1465A=
ENST00000527168.5:n.485A=
ENST00000529110.1:c.516A=
ENST00000529957.5:n.548A=
NM_032520.4:c.449A= NP_115909.1:p.His150=
XM_017023782.1:c.497A= XP_016879271.1:p.His166=
XM_017023783.1:c.89A= XP_016879272.1:p.His30=
NM_032520.5:c.449A= MANE Select NP_115909.1:p.His150=