Canonical Allele Identifier: CA4230150

Gene: GLI3

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41964742T>C , CM000669.2:g.41964742T>C	GRCh38
NC_000007.13:g.42004340T>C , CM000669.1:g.42004340T>C	GRCh37
NC_000007.12:g.41970865T>C	NCBI36
NG_008434.1:g.277279A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000168.6:c.4331A>G MANE Select	NP_000159.3:p.Tyr1444Cys
ENST00000395925.8:c.4331A>G MANE Select	ENSP00000379258.3:p.Tyr1444Cys
NM_000168.5:c.4331A>G	NP_000159.3:p.Tyr1444Cys
ENST00000395925.7:c.4331A>G	ENSP00000379258.3:p.Tyr1444Cys
ENST00000479210.1:n.4308A>G
ENST00000677288.1:c.4157A>G	ENSP00000503986.1:p.Tyr1386Cys
ENST00000677605.1:c.4331A>G	ENSP00000503743.1:p.Tyr1444Cys
ENST00000678429.1:c.4331A>G	ENSP00000502957.1:p.Tyr1444Cys
XM_005249703.1:c.4331A>G	XP_005249760.1:p.Tyr1444Cys
XM_005249704.2:c.4331A>G	XP_005249761.1:p.Tyr1444Cys
XM_011515272.1:c.4331A>G	XP_011513574.1:p.Tyr1444Cys
XM_011515273.1:c.4331A>G	XP_011513575.1:p.Tyr1444Cys
XM_011515274.1:c.4154A>G	XP_011513576.1:p.Tyr1385Cys
XM_011515274.2:c.4154A>G	XP_011513576.1:p.Tyr1385Cys
XM_017011997.1:c.4328A>G	XP_016867486.1:p.Tyr1443Cys