Canonical Allele Identifier: CA1702647557
Gene: GLI3 HGNC NCBI

Linked Data

dbSNP Id: rs1787383370

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.41972284T>G , CM000669.2:g.41972284T>G GRCh38
NC_000007.13:g.42011883T>G , CM000669.1:g.42011883T>G GRCh37
NC_000007.12:g.41978408T>G NCBI36
NG_008434.1:g.269736A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000395925.8:c.2103+53A>C MANE Select ENSP00000379258.3:n.2103+53A>C
ENST00000677288.1:c.1929+53A>C ENSP00000503986.1:n.1929+53A>C
ENST00000677605.1:c.2103+53A>C ENSP00000503743.1:n.2103+53A>C
ENST00000678429.1:c.2103+53A>C ENSP00000502957.1:n.2103+53A>C
ENST00000395925.7:c.2103+53A>C ENSP00000379258.3:n.2103+53A>C
ENST00000479210.1:n.2080+53A>C
NM_000168.5:c.2103+53A>C NP_000159.3:n.2103+53A>C
XM_005249703.1:c.2103+53A>C XP_005249760.1:n.2103+53A>C
XM_005249704.2:c.2103+53A>C XP_005249761.1:n.2103+53A>C
XM_011515272.1:c.2103+53A>C XP_011513574.1:n.2103+53A>C
XM_011515273.1:c.2103+53A>C XP_011513575.1:n.2103+53A>C
XM_011515274.1:c.1926+53A>C XP_011513576.1:n.1926+53A>C
XM_011515274.2:c.1926+53A>C XP_011513576.1:n.1926+53A>C
XM_017011997.1:c.2100+53A>C XP_016867486.1:n.2100+53A>C
NM_000168.6:c.2103+53A>C MANE Select NP_000159.3:n.2103+53A>C