Canonical Allele Identifier: CA367329551
Gene: GLI3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.42040114C>T , CM000669.2:g.42040114C>T GRCh38
NC_000007.13:g.42079713C>T , CM000669.1:g.42079713C>T GRCh37
NC_000007.12:g.42046238C>T NCBI36
NG_008434.1:g.201906G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395925.8:c.952G>A MANE Select ENSP00000379258.3:p.Val318Ile
ENST00000677288.1:c.775G>A ENSP00000503986.1:p.Val259Ile
ENST00000677605.1:c.952G>A ENSP00000503743.1:p.Val318Ile
ENST00000678429.1:c.952G>A ENSP00000502957.1:p.Val318Ile
ENST00000395925.7:c.952G>A ENSP00000379258.3:p.Val318Ile
ENST00000479210.1:n.929G>A
NM_000168.5:c.952G>A NP_000159.3:p.Val318Ile
XM_005249703.1:c.952G>A XP_005249760.1:p.Val318Ile
XM_005249704.2:c.952G>A XP_005249761.1:p.Val318Ile
XM_011515272.1:c.952G>A XP_011513574.1:p.Val318Ile
XM_011515273.1:c.952G>A XP_011513575.1:p.Val318Ile
XM_011515274.1:c.775G>A XP_011513576.1:p.Val259Ile
XM_011515274.2:c.775G>A XP_011513576.1:p.Val259Ile
XM_017011997.1:c.949G>A XP_016867486.1:p.Val317Ile
NM_000168.6:c.952G>A MANE Select NP_000159.3:p.Val318Ile