Canonical Allele Identifier: CA4231078

Gene: GLI3

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.42045467C>T , CM000669.2:g.42045467C>T	GRCh38
NC_000007.13:g.42085066C>T , CM000669.1:g.42085066C>T	GRCh37
NC_000007.12:g.42051591C>T	NCBI36
NG_008434.1:g.196553G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000168.6:c.743G>A MANE Select	NP_000159.3:p.Arg248His
ENST00000395925.8:c.743G>A MANE Select	ENSP00000379258.3:p.Arg248His
NM_000168.5:c.743G>A	NP_000159.3:p.Arg248His
ENST00000395925.7:c.743G>A	ENSP00000379258.3:p.Arg248His
ENST00000479210.1:n.720G>A
ENST00000677288.1:c.566G>A	ENSP00000503986.1:p.Arg189His
ENST00000677605.1:c.743G>A	ENSP00000503743.1:p.Arg248His
ENST00000678429.1:c.743G>A	ENSP00000502957.1:p.Arg248His
XM_005249703.1:c.743G>A	XP_005249760.1:p.Arg248His
XM_005249704.2:c.743G>A	XP_005249761.1:p.Arg248His
XM_011515272.1:c.743G>A	XP_011513574.1:p.Arg248His
XM_011515273.1:c.743G>A	XP_011513575.1:p.Arg248His
XM_011515274.1:c.566G>A	XP_011513576.1:p.Arg189His
XM_011515274.2:c.566G>A	XP_011513576.1:p.Arg189His
XM_017011997.1:c.740G>A	XP_016867486.1:p.Arg247His