Canonical Allele Identifier: CA367333150

Gene: GLI3

Linked Data

• gnomAD v4: 7-42048577-T-C
• MyVariant Identifiers: chr7:g.42088176T>C (hg19) ; chr7:g.42048577T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.42048577T>C , CM000669.2:g.42048577T>C	GRCh38
NC_000007.13:g.42088176T>C , CM000669.1:g.42088176T>C	GRCh37
NC_000007.12:g.42054701T>C	NCBI36
NG_008434.1:g.193443A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.593A>G MANE Select	ENSP00000379258.3:p.Asn198Ser
ENST00000677288.1:c.416A>G	ENSP00000503986.1:p.Asn139Ser
ENST00000677605.1:c.593A>G	ENSP00000503743.1:p.Asn198Ser
ENST00000678429.1:c.593A>G	ENSP00000502957.1:p.Asn198Ser
ENST00000395925.7:c.593A>G	ENSP00000379258.3:p.Asn198Ser
ENST00000479210.1:n.570A>G
NM_000168.5:c.593A>G	NP_000159.3:p.Asn198Ser
XM_005249703.1:c.593A>G	XP_005249760.1:p.Asn198Ser
XM_005249704.2:c.593A>G	XP_005249761.1:p.Asn198Ser
XM_011515272.1:c.593A>G	XP_011513574.1:p.Asn198Ser
XM_011515273.1:c.593A>G	XP_011513575.1:p.Asn198Ser
XM_011515274.1:c.416A>G	XP_011513576.1:p.Asn139Ser
XM_011515274.2:c.416A>G	XP_011513576.1:p.Asn139Ser
XM_017011997.1:c.590A>G	XP_016867486.1:p.Asn197Ser
NM_000168.6:c.593A>G MANE Select	NP_000159.3:p.Asn198Ser