Canonical Allele Identifier: CA454662354

Gene: GLI3

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41966274G>A , CM000669.2:g.41966274G>A	GRCh38
NC_000007.13:g.42005872G>A , CM000669.1:g.42005872G>A	GRCh37
NC_000007.12:g.41972397G>A	NCBI36
NG_008434.1:g.275747C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000168.6:c.2799C>T MANE Select	NP_000159.3:p.Tyr933=
ENST00000395925.8:c.2799C>T MANE Select	ENSP00000379258.3:p.Tyr933=
NM_000168.5:c.2799C>T	NP_000159.3:p.Tyr933=
ENST00000395925.7:c.2799C>T	ENSP00000379258.3:p.Tyr933=
ENST00000479210.1:n.2776C>T
ENST00000677288.1:c.2625C>T	ENSP00000503986.1:p.Tyr875=
ENST00000677605.1:c.2799C>T	ENSP00000503743.1:p.Tyr933=
ENST00000678429.1:c.2799C>T	ENSP00000502957.1:p.Tyr933=
XM_005249703.1:c.2799C>T	XP_005249760.1:p.Tyr933=
XM_005249704.2:c.2799C>T	XP_005249761.1:p.Tyr933=
XM_011515272.1:c.2799C>T	XP_011513574.1:p.Tyr933=
XM_011515273.1:c.2799C>T	XP_011513575.1:p.Tyr933=
XM_011515274.1:c.2622C>T	XP_011513576.1:p.Tyr874=
XM_011515274.2:c.2622C>T	XP_011513576.1:p.Tyr874=
XM_017011997.1:c.2796C>T	XP_016867486.1:p.Tyr932=