Canonical Allele Identifier: CA367323673

Gene: GLI3

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.42023468G>T , CM000669.2:g.42023468G>T	GRCh38
NC_000007.13:g.42063067G>T , CM000669.1:g.42063067G>T	GRCh37
NC_000007.12:g.42029592G>T	NCBI36
NG_008434.1:g.218552C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000168.6:c.1497C>A MANE Select	NP_000159.3:p.His499Gln
ENST00000395925.8:c.1497C>A MANE Select	ENSP00000379258.3:p.His499Gln
NM_000168.5:c.1497C>A	NP_000159.3:p.His499Gln
ENST00000395925.7:c.1497C>A	ENSP00000379258.3:p.His499Gln
ENST00000479210.1:n.1474C>A
ENST00000677288.1:c.1323C>A	ENSP00000503986.1:p.His441Gln
ENST00000677605.1:c.1497C>A	ENSP00000503743.1:p.His499Gln
ENST00000678429.1:c.1497C>A	ENSP00000502957.1:p.His499Gln
XM_005249703.1:c.1497C>A	XP_005249760.1:p.His499Gln
XM_005249704.2:c.1497C>A	XP_005249761.1:p.His499Gln
XM_011515272.1:c.1497C>A	XP_011513574.1:p.His499Gln
XM_011515273.1:c.1497C>A	XP_011513575.1:p.His499Gln
XM_011515274.1:c.1320C>A	XP_011513576.1:p.His440Gln
XM_011515274.2:c.1320C>A	XP_011513576.1:p.His440Gln
XM_017011997.1:c.1494C>A	XP_016867486.1:p.His498Gln