Canonical Allele Identifier: CA1702647743

Gene: GLI3

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41972403G= , CM000669.2:g.41972403G=	GRCh38
NC_000007.13:g.42012002G= , CM000669.1:g.42012002G=	GRCh37
NC_000007.12:g.41978527G=	NCBI36
NG_008434.1:g.269617C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.2037C= MANE Select	ENSP00000379258.3:p.Leu679=
ENST00000677288.1:c.1863C=	ENSP00000503986.1:p.Leu621=
ENST00000677605.1:c.2037C=	ENSP00000503743.1:p.Leu679=
ENST00000678429.1:c.2037C=	ENSP00000502957.1:p.Leu679=
ENST00000395925.7:c.2037C=	ENSP00000379258.3:p.Leu679=
ENST00000479210.1:n.2014C=
NM_000168.5:c.2037C=	NP_000159.3:p.Leu679=
XM_005249703.1:c.2037C=	XP_005249760.1:p.Leu679=
XM_005249704.2:c.2037C=	XP_005249761.1:p.Leu679=
XM_011515272.1:c.2037C=	XP_011513574.1:p.Leu679=
XM_011515273.1:c.2037C=	XP_011513575.1:p.Leu679=
XM_011515274.1:c.1860C=	XP_011513576.1:p.Leu620=
XM_011515274.2:c.1860C=	XP_011513576.1:p.Leu620=
XM_017011997.1:c.2034C=	XP_016867486.1:p.Leu678=
NM_000168.6:c.2037C= MANE Select	NP_000159.3:p.Leu679=