Canonical Allele Identifier: CA1702698915
Gene: GLI3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.42048570G= , CM000669.2:g.42048570G= GRCh38
NC_000007.13:g.42088169G= , CM000669.1:g.42088169G= GRCh37
NC_000007.12:g.42054694G= NCBI36
NG_008434.1:g.193450C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000395925.8:c.600C= MANE Select ENSP00000379258.3:p.Tyr200=
ENST00000677288.1:c.423C= ENSP00000503986.1:p.Tyr141=
ENST00000677605.1:c.600C= ENSP00000503743.1:p.Tyr200=
ENST00000678429.1:c.600C= ENSP00000502957.1:p.Tyr200=
ENST00000395925.7:c.600C= ENSP00000379258.3:p.Tyr200=
ENST00000479210.1:n.577C=
NM_000168.5:c.600C= NP_000159.3:p.Tyr200=
XM_005249703.1:c.600C= XP_005249760.1:p.Tyr200=
XM_005249704.2:c.600C= XP_005249761.1:p.Tyr200=
XM_011515272.1:c.600C= XP_011513574.1:p.Tyr200=
XM_011515273.1:c.600C= XP_011513575.1:p.Tyr200=
XM_011515274.1:c.423C= XP_011513576.1:p.Tyr141=
XM_011515274.2:c.423C= XP_011513576.1:p.Tyr141=
XM_017011997.1:c.597C= XP_016867486.1:p.Tyr199=
NM_000168.6:c.600C= MANE Select NP_000159.3:p.Tyr200=