Canonical Allele Identifier: CA2682509375
Gene: GLI3 HGNC NCBI

Linked Data

gnomAD v4: 7-41962740-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.41962740T>A , CM000669.2:g.41962740T>A GRCh38
NC_000007.13:g.42002338T>A , CM000669.1:g.42002338T>A GRCh37
NC_000007.12:g.41968863T>A NCBI36
NG_008434.1:g.279281A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395925.8:c.*1590A>T MANE Select ENSP00000379258.3:n.*1590A>T
ENST00000677288.1:c.*1590A>T ENSP00000503986.1:n.*1590A>T
ENST00000677605.1:c.*1590A>T ENSP00000503743.1:n.*1590A>T
ENST00000678429.1:c.*1590A>T ENSP00000502957.1:n.*1590A>T
ENST00000395925.7:c.*1590A>T ENSP00000379258.3:n.*1590A>T
NM_000168.5:c.*1590A>T NP_000159.3:n.*1590A>T
XM_005249703.1:c.*1590A>T XP_005249760.1:n.*1590A>T
XM_005249704.2:c.*1590A>T XP_005249761.1:n.*1590A>T
XM_011515272.1:c.*1590A>T XP_011513574.1:n.*1590A>T
XM_011515273.1:c.*1590A>T XP_011513575.1:n.*1590A>T
XM_011515274.1:c.*1590A>T XP_011513576.1:n.*1590A>T
NM_000168.6:c.*1590A>T MANE Select NP_000159.3:n.*1590A>T