Canonical Allele Identifier: CA367333455

Gene: GLI3

Linked Data

• gnomAD v4: 7-42048641-A-C
• MyVariant Identifiers: chr7:g.42088240A>C (hg19) ; chr7:g.42048641A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.42048641A>C , CM000669.2:g.42048641A>C	GRCh38
NC_000007.13:g.42088240A>C , CM000669.1:g.42088240A>C	GRCh37
NC_000007.12:g.42054765A>C	NCBI36
NG_008434.1:g.193379T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.529T>G MANE Select	ENSP00000379258.3:p.Ser177Ala
ENST00000677288.1:c.352T>G	ENSP00000503986.1:p.Ser118Ala
ENST00000677605.1:c.529T>G	ENSP00000503743.1:p.Ser177Ala
ENST00000678429.1:c.529T>G	ENSP00000502957.1:p.Ser177Ala
ENST00000395925.7:c.529T>G	ENSP00000379258.3:p.Ser177Ala
ENST00000448703.5:c.529T>G	ENSP00000406135.1:p.Ser177Ala
ENST00000479210.1:n.506T>G
NM_000168.5:c.529T>G	NP_000159.3:p.Ser177Ala
XM_005249703.1:c.529T>G	XP_005249760.1:p.Ser177Ala
XM_005249704.2:c.529T>G	XP_005249761.1:p.Ser177Ala
XM_011515272.1:c.529T>G	XP_011513574.1:p.Ser177Ala
XM_011515273.1:c.529T>G	XP_011513575.1:p.Ser177Ala
XM_011515274.1:c.352T>G	XP_011513576.1:p.Ser118Ala
XM_011515274.2:c.352T>G	XP_011513576.1:p.Ser118Ala
XM_017011997.1:c.526T>G	XP_016867486.1:p.Ser176Ala
NM_000168.6:c.529T>G MANE Select	NP_000159.3:p.Ser177Ala