Canonical Allele Identifier: CA4230725

Gene: GLI3

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41972486G>T , CM000669.2:g.41972486G>T	GRCh38
NC_000007.13:g.42012085G>T , CM000669.1:g.42012085G>T	GRCh37
NC_000007.12:g.41978610G>T	NCBI36
NG_008434.1:g.269534C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000168.6:c.1954C>A MANE Select	NP_000159.3:p.Pro652Thr
ENST00000395925.8:c.1954C>A MANE Select	ENSP00000379258.3:p.Pro652Thr
NM_000168.5:c.1954C>A	NP_000159.3:p.Pro652Thr
ENST00000395925.7:c.1954C>A	ENSP00000379258.3:p.Pro652Thr
ENST00000464291.1:n.507C>A
ENST00000479210.1:n.1931C>A
ENST00000677288.1:c.1780C>A	ENSP00000503986.1:p.Pro594Thr
ENST00000677605.1:c.1954C>A	ENSP00000503743.1:p.Pro652Thr
ENST00000678429.1:c.1954C>A	ENSP00000502957.1:p.Pro652Thr
XM_005249703.1:c.1954C>A	XP_005249760.1:p.Pro652Thr
XM_005249704.2:c.1954C>A	XP_005249761.1:p.Pro652Thr
XM_011515272.1:c.1954C>A	XP_011513574.1:p.Pro652Thr
XM_011515273.1:c.1954C>A	XP_011513575.1:p.Pro652Thr
XM_011515274.1:c.1777C>A	XP_011513576.1:p.Pro593Thr
XM_011515274.2:c.1777C>A	XP_011513576.1:p.Pro593Thr
XM_017011997.1:c.1951C>A	XP_016867486.1:p.Pro651Thr