Canonical Allele Identifier: CA367315125

Gene: GLI3

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41964681G>T , CM000669.2:g.41964681G>T	GRCh38
NC_000007.13:g.42004279G>T , CM000669.1:g.42004279G>T	GRCh37
NC_000007.12:g.41970804G>T	NCBI36
NG_008434.1:g.277340C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000168.6:c.4392C>A MANE Select	NP_000159.3:p.Asp1464Glu
ENST00000395925.8:c.4392C>A MANE Select	ENSP00000379258.3:p.Asp1464Glu
NM_000168.5:c.4392C>A	NP_000159.3:p.Asp1464Glu
ENST00000395925.7:c.4392C>A	ENSP00000379258.3:p.Asp1464Glu
ENST00000479210.1:n.4369C>A
ENST00000677288.1:c.4218C>A	ENSP00000503986.1:p.Asp1406Glu
ENST00000677605.1:c.4392C>A	ENSP00000503743.1:p.Asp1464Glu
ENST00000678429.1:c.4392C>A	ENSP00000502957.1:p.Asp1464Glu
XM_005249703.1:c.4392C>A	XP_005249760.1:p.Asp1464Glu
XM_005249704.2:c.4392C>A	XP_005249761.1:p.Asp1464Glu
XM_011515272.1:c.4392C>A	XP_011513574.1:p.Asp1464Glu
XM_011515273.1:c.4392C>A	XP_011513575.1:p.Asp1464Glu
XM_011515274.1:c.4215C>A	XP_011513576.1:p.Asp1405Glu
XM_011515274.2:c.4215C>A	XP_011513576.1:p.Asp1405Glu
XM_017011997.1:c.4389C>A	XP_016867486.1:p.Asp1463Glu