Canonical Allele Identifier: CA367318990

Gene: GLI3

Linked Data

• MyVariant Identifiers: chr7:g.42005489T>G (hg19) ; chr7:g.41965891T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41965891T>G , CM000669.2:g.41965891T>G	GRCh38
NC_000007.13:g.42005489T>G , CM000669.1:g.42005489T>G	GRCh37
NC_000007.12:g.41972014T>G	NCBI36
NG_008434.1:g.276130A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.3182A>C MANE Select	ENSP00000379258.3:p.His1061Pro
ENST00000677288.1:c.3008A>C	ENSP00000503986.1:p.His1003Pro
ENST00000677605.1:c.3182A>C	ENSP00000503743.1:p.His1061Pro
ENST00000678429.1:c.3182A>C	ENSP00000502957.1:p.His1061Pro
ENST00000395925.7:c.3182A>C	ENSP00000379258.3:p.His1061Pro
ENST00000479210.1:n.3159A>C
NM_000168.5:c.3182A>C	NP_000159.3:p.His1061Pro
XM_005249703.1:c.3182A>C	XP_005249760.1:p.His1061Pro
XM_005249704.2:c.3182A>C	XP_005249761.1:p.His1061Pro
XM_011515272.1:c.3182A>C	XP_011513574.1:p.His1061Pro
XM_011515273.1:c.3182A>C	XP_011513575.1:p.His1061Pro
XM_011515274.1:c.3005A>C	XP_011513576.1:p.His1002Pro
XM_011515274.2:c.3005A>C	XP_011513576.1:p.His1002Pro
XM_017011997.1:c.3179A>C	XP_016867486.1:p.His1060Pro
NM_000168.6:c.3182A>C MANE Select	NP_000159.3:p.His1061Pro