Canonical Allele Identifier: CA454537616

Gene: GLI3

Linked Data

• gnomAD v3: 7-42048591-T-G
• gnomAD v4: 7-42048591-T-G
• MyVariant Identifiers: chr7:g.42088190T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.42048591T>G , CM000669.2:g.42048591T>G	GRCh38
NC_000007.13:g.42088190T>G , CM000669.1:g.42088190T>G	GRCh37
NC_000007.12:g.42054715T>G	NCBI36
NG_008434.1:g.193429A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.579A>C MANE Select	ENSP00000379258.3:p.Pro193=
ENST00000677288.1:c.402A>C	ENSP00000503986.1:p.Pro134=
ENST00000677605.1:c.579A>C	ENSP00000503743.1:p.Pro193=
ENST00000678429.1:c.579A>C	ENSP00000502957.1:p.Pro193=
ENST00000395925.7:c.579A>C	ENSP00000379258.3:p.Pro193=
ENST00000479210.1:n.556A>C
NM_000168.5:c.579A>C	NP_000159.3:p.Pro193=
XM_005249703.1:c.579A>C	XP_005249760.1:p.Pro193=
XM_005249704.2:c.579A>C	XP_005249761.1:p.Pro193=
XM_011515272.1:c.579A>C	XP_011513574.1:p.Pro193=
XM_011515273.1:c.579A>C	XP_011513575.1:p.Pro193=
XM_011515274.1:c.402A>C	XP_011513576.1:p.Pro134=
XM_011515274.2:c.402A>C	XP_011513576.1:p.Pro134=
XM_017011997.1:c.576A>C	XP_016867486.1:p.Pro192=
NM_000168.6:c.579A>C MANE Select	NP_000159.3:p.Pro193=