Canonical Allele Identifier: CA367329716
Gene: GLI3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.42040185A>C , CM000669.2:g.42040185A>C GRCh38
NC_000007.13:g.42079784A>C , CM000669.1:g.42079784A>C GRCh37
NC_000007.12:g.42046309A>C NCBI36
NG_008434.1:g.201835T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000395925.8:c.881T>G MANE Select ENSP00000379258.3:p.Leu294Arg
ENST00000677288.1:c.704T>G ENSP00000503986.1:p.Leu235Arg
ENST00000677605.1:c.881T>G ENSP00000503743.1:p.Leu294Arg
ENST00000678429.1:c.881T>G ENSP00000502957.1:p.Leu294Arg
ENST00000395925.7:c.881T>G ENSP00000379258.3:p.Leu294Arg
ENST00000479210.1:n.858T>G
NM_000168.5:c.881T>G NP_000159.3:p.Leu294Arg
XM_005249703.1:c.881T>G XP_005249760.1:p.Leu294Arg
XM_005249704.2:c.881T>G XP_005249761.1:p.Leu294Arg
XM_011515272.1:c.881T>G XP_011513574.1:p.Leu294Arg
XM_011515273.1:c.881T>G XP_011513575.1:p.Leu294Arg
XM_011515274.1:c.704T>G XP_011513576.1:p.Leu235Arg
XM_011515274.2:c.704T>G XP_011513576.1:p.Leu235Arg
XM_017011997.1:c.878T>G XP_016867486.1:p.Leu293Arg
NM_000168.6:c.881T>G MANE Select NP_000159.3:p.Leu294Arg