Canonical Allele Identifier: CA367333406

Gene: GLI3

Linked Data

• MyVariant Identifiers: chr7:g.42088230C>A (hg19) ; chr7:g.42048631C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.42048631C>A , CM000669.2:g.42048631C>A	GRCh38
NC_000007.13:g.42088230C>A , CM000669.1:g.42088230C>A	GRCh37
NC_000007.12:g.42054755C>A	NCBI36
NG_008434.1:g.193389G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.539G>T MANE Select	ENSP00000379258.3:p.Arg180Leu
ENST00000677288.1:c.362G>T	ENSP00000503986.1:p.Arg121Leu
ENST00000677605.1:c.539G>T	ENSP00000503743.1:p.Arg180Leu
ENST00000678429.1:c.539G>T	ENSP00000502957.1:p.Arg180Leu
ENST00000395925.7:c.539G>T	ENSP00000379258.3:p.Arg180Leu
ENST00000448703.5:c.539G>T	ENSP00000406135.1:p.Arg180Leu
ENST00000479210.1:n.516G>T
NM_000168.5:c.539G>T	NP_000159.3:p.Arg180Leu
XM_005249703.1:c.539G>T	XP_005249760.1:p.Arg180Leu
XM_005249704.2:c.539G>T	XP_005249761.1:p.Arg180Leu
XM_011515272.1:c.539G>T	XP_011513574.1:p.Arg180Leu
XM_011515273.1:c.539G>T	XP_011513575.1:p.Arg180Leu
XM_011515274.1:c.362G>T	XP_011513576.1:p.Arg121Leu
XM_011515274.2:c.362G>T	XP_011513576.1:p.Arg121Leu
XM_017011997.1:c.536G>T	XP_016867486.1:p.Arg179Leu
NM_000168.6:c.539G>T MANE Select	NP_000159.3:p.Arg180Leu