Canonical Allele Identifier: CA2619456619

Gene: GLI1

Linked Data

• gnomAD v4: 12-57466059-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57466059T>C , CM000674.2:g.57466059T>C	GRCh38
NC_000012.11:g.57859842T>C , CM000674.1:g.57859842T>C	GRCh37
NC_000012.10:g.56146109T>C	NCBI36
NG_029564.1:g.10925T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000228682.7:c.762+134T>C MANE Select	ENSP00000228682.2:n.762+134T>C
ENST00000228682.6:c.762+134T>C	ENSP00000228682.2:n.762+134T>C
ENST00000527742.1:n.594T>C
ENST00000528467.1:c.639+134T>C	ENSP00000434408.1:n.639+134T>C
ENST00000532291.5:c.378+134T>C	ENSP00000436671.1:n.378+134T>C
ENST00000543426.5:c.378+134T>C	ENSP00000437607.1:n.378+134T>C
ENST00000546141.5:c.639+134T>C	ENSP00000441006.1:n.639+134T>C
NM_001160045.1:c.378+134T>C	NP_001153517.1:n.378+134T>C
NM_001167609.1:c.639+134T>C	NP_001161081.1:n.639+134T>C
NM_005269.2:c.762+134T>C	NP_005260.1:n.762+134T>C
XM_005268799.2:c.378+134T>C	XP_005268856.1:n.378+134T>C
XM_011538189.1:c.762+134T>C	XP_011536491.1:n.762+134T>C
XM_011538190.1:c.762+134T>C	XP_011536492.1:n.762+134T>C
XM_011538189.2:c.762+134T>C	XP_011536491.1:n.762+134T>C
XM_011538190.2:c.762+134T>C	XP_011536492.1:n.762+134T>C
NM_005269.3:c.762+134T>C MANE Select	NP_005260.1:n.762+134T>C
NM_001160045.2:c.378+134T>C	NP_001153517.1:n.378+134T>C
NM_001167609.2:c.639+134T>C	NP_001161081.1:n.639+134T>C