Canonical Allele Identifier: CA1702698924
Gene: GLI3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.42048579A= , CM000669.2:g.42048579A= GRCh38
NC_000007.13:g.42088178A= , CM000669.1:g.42088178A= GRCh37
NC_000007.12:g.42054703A= NCBI36
NG_008434.1:g.193441T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000395925.8:c.591T= MANE Select ENSP00000379258.3:p.Ile197=
ENST00000677288.1:c.414T= ENSP00000503986.1:p.Ile138=
ENST00000677605.1:c.591T= ENSP00000503743.1:p.Ile197=
ENST00000678429.1:c.591T= ENSP00000502957.1:p.Ile197=
ENST00000395925.7:c.591T= ENSP00000379258.3:p.Ile197=
ENST00000479210.1:n.568T=
NM_000168.5:c.591T= NP_000159.3:p.Ile197=
XM_005249703.1:c.591T= XP_005249760.1:p.Ile197=
XM_005249704.2:c.591T= XP_005249761.1:p.Ile197=
XM_011515272.1:c.591T= XP_011513574.1:p.Ile197=
XM_011515273.1:c.591T= XP_011513575.1:p.Ile197=
XM_011515274.1:c.414T= XP_011513576.1:p.Ile138=
XM_011515274.2:c.414T= XP_011513576.1:p.Ile138=
XM_017011997.1:c.588T= XP_016867486.1:p.Ile196=
NM_000168.6:c.591T= MANE Select NP_000159.3:p.Ile197=