Canonical Allele Identifier: CA4230900

Gene: GLI3

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.42025367G>A , CM000669.2:g.42025367G>A	GRCh38
NC_000007.13:g.42064966G>A , CM000669.1:g.42064966G>A	GRCh37
NC_000007.12:g.42031491G>A	NCBI36
NG_008434.1:g.216653C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000168.6:c.1253C>T MANE Select	NP_000159.3:p.Thr418Met
ENST00000395925.8:c.1253C>T MANE Select	ENSP00000379258.3:p.Thr418Met
NM_000168.5:c.1253C>T	NP_000159.3:p.Thr418Met
ENST00000395925.7:c.1253C>T	ENSP00000379258.3:p.Thr418Met
ENST00000479210.1:n.1230C>T
ENST00000677288.1:c.1079C>T	ENSP00000503986.1:p.Thr360Met
ENST00000677605.1:c.1253C>T	ENSP00000503743.1:p.Thr418Met
ENST00000678429.1:c.1253C>T	ENSP00000502957.1:p.Thr418Met
XM_005249703.1:c.1253C>T	XP_005249760.1:p.Thr418Met
XM_005249704.2:c.1253C>T	XP_005249761.1:p.Thr418Met
XM_011515272.1:c.1253C>T	XP_011513574.1:p.Thr418Met
XM_011515273.1:c.1253C>T	XP_011513575.1:p.Thr418Met
XM_011515274.1:c.1076C>T	XP_011513576.1:p.Thr359Met
XM_011515274.2:c.1076C>T	XP_011513576.1:p.Thr359Met
XM_017011997.1:c.1250C>T	XP_016867486.1:p.Thr417Met