Canonical Allele Identifier: CA454662534
Gene: GLI3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.42005395C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.41965797C>A , CM000669.2:g.41965797C>A GRCh38
NC_000007.13:g.42005395C>A , CM000669.1:g.42005395C>A GRCh37
NC_000007.12:g.41971920C>A NCBI36
NG_008434.1:g.276224G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395925.8:c.3276G>T MANE Select ENSP00000379258.3:p.Leu1092=
ENST00000677288.1:c.3102G>T ENSP00000503986.1:p.Leu1034=
ENST00000677605.1:c.3276G>T ENSP00000503743.1:p.Leu1092=
ENST00000678429.1:c.3276G>T ENSP00000502957.1:p.Leu1092=
ENST00000395925.7:c.3276G>T ENSP00000379258.3:p.Leu1092=
ENST00000479210.1:n.3253G>T
NM_000168.5:c.3276G>T NP_000159.3:p.Leu1092=
XM_005249703.1:c.3276G>T XP_005249760.1:p.Leu1092=
XM_005249704.2:c.3276G>T XP_005249761.1:p.Leu1092=
XM_011515272.1:c.3276G>T XP_011513574.1:p.Leu1092=
XM_011515273.1:c.3276G>T XP_011513575.1:p.Leu1092=
XM_011515274.1:c.3099G>T XP_011513576.1:p.Leu1033=
XM_011515274.2:c.3099G>T XP_011513576.1:p.Leu1033=
XM_017011997.1:c.3273G>T XP_016867486.1:p.Leu1091=
NM_000168.6:c.3276G>T MANE Select NP_000159.3:p.Leu1092=