Canonical Allele Identifier: CA454533039

Gene: GLI3

Linked Data

• MyVariant Identifiers: chr7:g.42079648T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.42040049T>G , CM000669.2:g.42040049T>G	GRCh38
NC_000007.13:g.42079648T>G , CM000669.1:g.42079648T>G	GRCh37
NC_000007.12:g.42046173T>G	NCBI36
NG_008434.1:g.201971A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.1017A>C MANE Select	ENSP00000379258.3:p.Ala339=
ENST00000677288.1:c.840A>C	ENSP00000503986.1:p.Ala280=
ENST00000677605.1:c.1017A>C	ENSP00000503743.1:p.Ala339=
ENST00000678429.1:c.1017A>C	ENSP00000502957.1:p.Ala339=
ENST00000395925.7:c.1017A>C	ENSP00000379258.3:p.Ala339=
ENST00000479210.1:n.994A>C
NM_000168.5:c.1017A>C	NP_000159.3:p.Ala339=
XM_005249703.1:c.1017A>C	XP_005249760.1:p.Ala339=
XM_005249704.2:c.1017A>C	XP_005249761.1:p.Ala339=
XM_011515272.1:c.1017A>C	XP_011513574.1:p.Ala339=
XM_011515273.1:c.1017A>C	XP_011513575.1:p.Ala339=
XM_011515274.1:c.840A>C	XP_011513576.1:p.Ala280=
XM_011515274.2:c.840A>C	XP_011513576.1:p.Ala280=
XM_017011997.1:c.1014A>C	XP_016867486.1:p.Ala338=
NM_000168.6:c.1017A>C MANE Select	NP_000159.3:p.Ala339=