Canonical Allele Identifier: CA454663519
Gene: GLI3 HGNC NCBI

Linked Data

dbSNP Id: rs764993251
MyVariant Identifiers: chr7:g.42007426G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.41967828G>C , CM000669.2:g.41967828G>C GRCh38
NC_000007.13:g.42007426G>C , CM000669.1:g.42007426G>C GRCh37
NC_000007.12:g.41973951G>C NCBI36
NG_008434.1:g.274193C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000395925.8:c.2199C>G MANE Select ENSP00000379258.3:p.Thr733=
ENST00000677288.1:c.2025C>G ENSP00000503986.1:p.Thr675=
ENST00000677605.1:c.2199C>G ENSP00000503743.1:p.Thr733=
ENST00000678429.1:c.2199C>G ENSP00000502957.1:p.Thr733=
ENST00000395925.7:c.2199C>G ENSP00000379258.3:p.Thr733=
ENST00000479210.1:n.2176C>G
NM_000168.5:c.2199C>G NP_000159.3:p.Thr733=
XM_005249703.1:c.2199C>G XP_005249760.1:p.Thr733=
XM_005249704.2:c.2199C>G XP_005249761.1:p.Thr733=
XM_011515272.1:c.2199C>G XP_011513574.1:p.Thr733=
XM_011515273.1:c.2199C>G XP_011513575.1:p.Thr733=
XM_011515274.1:c.2022C>G XP_011513576.1:p.Thr674=
XM_011515274.2:c.2022C>G XP_011513576.1:p.Thr674=
XM_017011997.1:c.2196C>G XP_016867486.1:p.Thr732=
NM_000168.6:c.2199C>G MANE Select NP_000159.3:p.Thr733=