Canonical Allele Identifier: CA367333239

Gene: GLI3

Linked Data

• gnomAD v4: 7-42048593-G-C
• MyVariant Identifiers: chr7:g.42088192G>C (hg19) ; chr7:g.42048593G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.42048593G>C , CM000669.2:g.42048593G>C	GRCh38
NC_000007.13:g.42088192G>C , CM000669.1:g.42088192G>C	GRCh37
NC_000007.12:g.42054717G>C	NCBI36
NG_008434.1:g.193427C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.577C>G MANE Select	ENSP00000379258.3:p.Pro193Ala
ENST00000677288.1:c.400C>G	ENSP00000503986.1:p.Pro134Ala
ENST00000677605.1:c.577C>G	ENSP00000503743.1:p.Pro193Ala
ENST00000678429.1:c.577C>G	ENSP00000502957.1:p.Pro193Ala
ENST00000395925.7:c.577C>G	ENSP00000379258.3:p.Pro193Ala
ENST00000479210.1:n.554C>G
NM_000168.5:c.577C>G	NP_000159.3:p.Pro193Ala
XM_005249703.1:c.577C>G	XP_005249760.1:p.Pro193Ala
XM_005249704.2:c.577C>G	XP_005249761.1:p.Pro193Ala
XM_011515272.1:c.577C>G	XP_011513574.1:p.Pro193Ala
XM_011515273.1:c.577C>G	XP_011513575.1:p.Pro193Ala
XM_011515274.1:c.400C>G	XP_011513576.1:p.Pro134Ala
XM_011515274.2:c.400C>G	XP_011513576.1:p.Pro134Ala
XM_017011997.1:c.574C>G	XP_016867486.1:p.Pro192Ala
NM_000168.6:c.577C>G MANE Select	NP_000159.3:p.Pro193Ala