Canonical Allele Identifier: CA1702661970
Community Standard Title: NM_000168.6(GLI3):c.2110C= (p.Gln704=)
Gene: GLI3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.41967917G= , CM000669.2:g.41967917G= GRCh38
NC_000007.13:g.42007515G= , CM000669.1:g.42007515G= GRCh37
NC_000007.12:g.41974040G= NCBI36
NG_008434.1:g.274104C=

Transcript Alleles

HGVS Amino-acid Change
NM_000168.6:c.2110C= MANE Select NP_000159.3:p.Gln704=
ENST00000395925.8:c.2110C= MANE Select ENSP00000379258.3:p.Gln704=
NM_000168.5:c.2110C= NP_000159.3:p.Gln704=
ENST00000395925.7:c.2110C= ENSP00000379258.3:p.Gln704=
ENST00000479210.1:n.2087C=
ENST00000677288.1:c.1936C= ENSP00000503986.1:p.Gln646=
ENST00000677605.1:c.2110C= ENSP00000503743.1:p.Gln704=
ENST00000678429.1:c.2110C= ENSP00000502957.1:p.Gln704=
XM_005249703.1:c.2110C= XP_005249760.1:p.Gln704=
XM_005249704.2:c.2110C= XP_005249761.1:p.Gln704=
XM_011515272.1:c.2110C= XP_011513574.1:p.Gln704=
XM_011515273.1:c.2110C= XP_011513575.1:p.Gln704=
XM_011515274.1:c.1933C= XP_011513576.1:p.Gln645=
XM_011515274.2:c.1933C= XP_011513576.1:p.Gln645=
XM_017011997.1:c.2107C= XP_016867486.1:p.Gln703=