Canonical Allele Identifier: CA367322261

Gene: GLI3

Linked Data

• MyVariant Identifiers: chr7:g.42012076C>A (hg19) ; chr7:g.41972477C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41972477C>A , CM000669.2:g.41972477C>A	GRCh38
NC_000007.13:g.42012076C>A , CM000669.1:g.42012076C>A	GRCh37
NC_000007.12:g.41978601C>A	NCBI36
NG_008434.1:g.269543G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.1963G>T MANE Select	ENSP00000379258.3:p.Asp655Tyr
ENST00000677288.1:c.1789G>T	ENSP00000503986.1:p.Asp597Tyr
ENST00000677605.1:c.1963G>T	ENSP00000503743.1:p.Asp655Tyr
ENST00000678429.1:c.1963G>T	ENSP00000502957.1:p.Asp655Tyr
ENST00000395925.7:c.1963G>T	ENSP00000379258.3:p.Asp655Tyr
ENST00000464291.1:n.516G>T
ENST00000479210.1:n.1940G>T
NM_000168.5:c.1963G>T	NP_000159.3:p.Asp655Tyr
XM_005249703.1:c.1963G>T	XP_005249760.1:p.Asp655Tyr
XM_005249704.2:c.1963G>T	XP_005249761.1:p.Asp655Tyr
XM_011515272.1:c.1963G>T	XP_011513574.1:p.Asp655Tyr
XM_011515273.1:c.1963G>T	XP_011513575.1:p.Asp655Tyr
XM_011515274.1:c.1786G>T	XP_011513576.1:p.Asp596Tyr
XM_011515274.2:c.1786G>T	XP_011513576.1:p.Asp596Tyr
XM_017011997.1:c.1960G>T	XP_016867486.1:p.Asp654Tyr
NM_000168.6:c.1963G>T MANE Select	NP_000159.3:p.Asp655Tyr