Canonical Allele Identifier: CA367333376
Gene: GLI3 HGNC NCBI

Linked Data

gnomAD v4: 7-42048623-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.42048623T>G , CM000669.2:g.42048623T>G GRCh38
NC_000007.13:g.42088222T>G , CM000669.1:g.42088222T>G GRCh37
NC_000007.12:g.42054747T>G NCBI36
NG_008434.1:g.193397A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000395925.8:c.547A>C MANE Select ENSP00000379258.3:p.Thr183Pro
ENST00000677288.1:c.370A>C ENSP00000503986.1:p.Thr124Pro
ENST00000677605.1:c.547A>C ENSP00000503743.1:p.Thr183Pro
ENST00000678429.1:c.547A>C ENSP00000502957.1:p.Thr183Pro
ENST00000395925.7:c.547A>C ENSP00000379258.3:p.Thr183Pro
ENST00000479210.1:n.524A>C
NM_000168.5:c.547A>C NP_000159.3:p.Thr183Pro
XM_005249703.1:c.547A>C XP_005249760.1:p.Thr183Pro
XM_005249704.2:c.547A>C XP_005249761.1:p.Thr183Pro
XM_011515272.1:c.547A>C XP_011513574.1:p.Thr183Pro
XM_011515273.1:c.547A>C XP_011513575.1:p.Thr183Pro
XM_011515274.1:c.370A>C XP_011513576.1:p.Thr124Pro
XM_011515274.2:c.370A>C XP_011513576.1:p.Thr124Pro
XM_017011997.1:c.544A>C XP_016867486.1:p.Thr182Pro
NM_000168.6:c.547A>C MANE Select NP_000159.3:p.Thr183Pro