Canonical Allele Identifier: CA4230651

Gene: GLI3

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41967770T>C , CM000669.2:g.41967770T>C	GRCh38
NC_000007.13:g.42007368T>C , CM000669.1:g.42007368T>C	GRCh37
NC_000007.12:g.41973893T>C	NCBI36
NG_008434.1:g.274251A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000168.6:c.2257A>G MANE Select	NP_000159.3:p.Thr753Ala
ENST00000395925.8:c.2257A>G MANE Select	ENSP00000379258.3:p.Thr753Ala
NM_000168.5:c.2257A>G	NP_000159.3:p.Thr753Ala
ENST00000395925.7:c.2257A>G	ENSP00000379258.3:p.Thr753Ala
ENST00000479210.1:n.2234A>G
ENST00000677288.1:c.2083A>G	ENSP00000503986.1:p.Thr695Ala
ENST00000677605.1:c.2257A>G	ENSP00000503743.1:p.Thr753Ala
ENST00000678429.1:c.2257A>G	ENSP00000502957.1:p.Thr753Ala
XM_005249703.1:c.2257A>G	XP_005249760.1:p.Thr753Ala
XM_005249704.2:c.2257A>G	XP_005249761.1:p.Thr753Ala
XM_011515272.1:c.2257A>G	XP_011513574.1:p.Thr753Ala
XM_011515273.1:c.2257A>G	XP_011513575.1:p.Thr753Ala
XM_011515274.1:c.2080A>G	XP_011513576.1:p.Thr694Ala
XM_011515274.2:c.2080A>G	XP_011513576.1:p.Thr694Ala
XM_017011997.1:c.2254A>G	XP_016867486.1:p.Thr752Ala