Canonical Allele Identifier: CA367317717

Gene: GLI3

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41965482C>G , CM000669.2:g.41965482C>G	GRCh38
NC_000007.13:g.42005080C>G , CM000669.1:g.42005080C>G	GRCh37
NC_000007.12:g.41971605C>G	NCBI36
NG_008434.1:g.276539G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000168.6:c.3591G>C MANE Select	NP_000159.3:p.Met1197Ile
ENST00000395925.8:c.3591G>C MANE Select	ENSP00000379258.3:p.Met1197Ile
NM_000168.5:c.3591G>C	NP_000159.3:p.Met1197Ile
ENST00000395925.7:c.3591G>C	ENSP00000379258.3:p.Met1197Ile
ENST00000479210.1:n.3568G>C
ENST00000677288.1:c.3417G>C	ENSP00000503986.1:p.Met1139Ile
ENST00000677605.1:c.3591G>C	ENSP00000503743.1:p.Met1197Ile
ENST00000678429.1:c.3591G>C	ENSP00000502957.1:p.Met1197Ile
XM_005249703.1:c.3591G>C	XP_005249760.1:p.Met1197Ile
XM_005249704.2:c.3591G>C	XP_005249761.1:p.Met1197Ile
XM_011515272.1:c.3591G>C	XP_011513574.1:p.Met1197Ile
XM_011515273.1:c.3591G>C	XP_011513575.1:p.Met1197Ile
XM_011515274.1:c.3414G>C	XP_011513576.1:p.Met1138Ile
XM_011515274.2:c.3414G>C	XP_011513576.1:p.Met1138Ile
XM_017011997.1:c.3588G>C	XP_016867486.1:p.Met1196Ile