Canonical Allele Identifier: CA4231268

Gene: GLI3

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.42148348C>T , CM000669.2:g.42148348C>T	GRCh38
NC_000007.13:g.42187947C>T , CM000669.1:g.42187947C>T	GRCh37
NC_000007.12:g.42154472C>T	NCBI36
NG_008434.1:g.93672G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000168.6:c.245G>A MANE Select	NP_000159.3:p.Arg82Lys
ENST00000395925.8:c.245G>A MANE Select	ENSP00000379258.3:p.Arg82Lys
NM_000168.5:c.245G>A	NP_000159.3:p.Arg82Lys
ENST00000395925.7:c.245G>A	ENSP00000379258.3:p.Arg82Lys
ENST00000448703.5:c.245G>A	ENSP00000406135.1:p.Arg82Lys
ENST00000479210.1:n.222G>A
ENST00000642432.1:c.68G>A	ENSP00000495498.1:p.Arg23Lys
ENST00000643264.1:c.68G>A	ENSP00000495207.1:p.Arg23Lys
ENST00000647255.1:c.68G>A	ENSP00000495745.1:p.Arg23Lys
ENST00000677288.1:c.68G>A	ENSP00000503986.1:p.Arg23Lys
ENST00000677605.1:c.245G>A	ENSP00000503743.1:p.Arg82Lys
ENST00000678429.1:c.245G>A	ENSP00000502957.1:p.Arg82Lys
XM_005249703.1:c.245G>A	XP_005249760.1:p.Arg82Lys
XM_005249704.2:c.245G>A	XP_005249761.1:p.Arg82Lys
XM_011515272.1:c.245G>A	XP_011513574.1:p.Arg82Lys
XM_011515273.1:c.245G>A	XP_011513575.1:p.Arg82Lys
XM_011515274.1:c.68G>A	XP_011513576.1:p.Arg23Lys
XM_011515274.2:c.68G>A	XP_011513576.1:p.Arg23Lys
XM_017011997.1:c.242G>A	XP_016867486.1:p.Arg81Lys