Canonical Allele Identifier: CA367550161
Community Standard Title: NM_000168.6(GLI3):c.367+1G>A
Gene: GLI3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.42148225C>T , CM000669.2:g.42148225C>T GRCh38
NC_000007.13:g.42187824C>T , CM000669.1:g.42187824C>T GRCh37
NC_000007.12:g.42154349C>T NCBI36
NG_008434.1:g.93795G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000168.6:c.367+1G>A MANE Select NP_000159.3:n.367+1G>A
ENST00000395925.8:c.367+1G>A MANE Select ENSP00000379258.3:n.367+1G>A
NM_000168.5:c.367+1G>A NP_000159.3:n.367+1G>A
ENST00000395925.7:c.367+1G>A ENSP00000379258.3:n.367+1G>A
ENST00000448703.5:c.367+1G>A ENSP00000406135.1:n.367+1G>A
ENST00000479210.1:n.344+1G>A
ENST00000642432.1:c.190+1G>A ENSP00000495498.1:n.190+1G>A
ENST00000643264.1:c.190+1G>A ENSP00000495207.1:n.190+1G>A
ENST00000647255.1:c.190+1G>A ENSP00000495745.1:n.190+1G>A
ENST00000677288.1:c.190+1G>A ENSP00000503986.1:n.190+1G>A
ENST00000677605.1:c.367+1G>A ENSP00000503743.1:n.367+1G>A
ENST00000678429.1:c.367+1G>A ENSP00000502957.1:n.367+1G>A
XM_005249703.1:c.367+1G>A XP_005249760.1:n.367+1G>A
XM_005249704.2:c.367+1G>A XP_005249761.1:n.367+1G>A
XM_011515272.1:c.367+1G>A XP_011513574.1:n.367+1G>A
XM_011515273.1:c.367+1G>A XP_011513575.1:n.367+1G>A
XM_011515274.1:c.190+1G>A XP_011513576.1:n.190+1G>A
XM_011515274.2:c.190+1G>A XP_011513576.1:n.190+1G>A
XM_017011997.1:c.364+1G>A XP_016867486.1:n.364+1G>A