Canonical Allele Identifier: CA4231238
Gene: GLI3 HGNC NCBI

Linked Data

ClinVar Variation Id: 289225
dbSNP Id: rs150295615

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.42148230G>A , CM000669.2:g.42148230G>A GRCh38
NC_000007.13:g.42187829G>A , CM000669.1:g.42187829G>A GRCh37
NC_000007.12:g.42154354G>A NCBI36
NG_008434.1:g.93790C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000395925.8:c.363C>T MANE Select ENSP00000379258.3:p.His121=
ENST00000642432.1:c.186C>T ENSP00000495498.1:p.His62=
ENST00000643264.1:c.186C>T ENSP00000495207.1:p.His62=
ENST00000647255.1:c.186C>T ENSP00000495745.1:p.His62=
ENST00000677288.1:c.186C>T ENSP00000503986.1:p.His62=
ENST00000677605.1:c.363C>T ENSP00000503743.1:p.His121=
ENST00000678429.1:c.363C>T ENSP00000502957.1:p.His121=
ENST00000395925.7:c.363C>T ENSP00000379258.3:p.His121=
ENST00000448703.5:c.363C>T ENSP00000406135.1:p.His121=
ENST00000479210.1:n.340C>T
NM_000168.5:c.363C>T NP_000159.3:p.His121=
XM_005249703.1:c.363C>T XP_005249760.1:p.His121=
XM_005249704.2:c.363C>T XP_005249761.1:p.His121=
XM_011515272.1:c.363C>T XP_011513574.1:p.His121=
XM_011515273.1:c.363C>T XP_011513575.1:p.His121=
XM_011515274.1:c.186C>T XP_011513576.1:p.His62=
XM_011515274.2:c.186C>T XP_011513576.1:p.His62=
XM_017011997.1:c.360C>T XP_016867486.1:p.His120=
NM_000168.6:c.363C>T MANE Select NP_000159.3:p.His121=