Canonical Allele Identifier: CA367549922
Community Standard Title: NM_000168.6(GLI3):c.473+1G>A
Gene: GLI3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.42076751C>T , CM000669.2:g.42076751C>T GRCh38
NC_000007.13:g.42116350C>T , CM000669.1:g.42116350C>T GRCh37
NC_000007.12:g.42082875C>T NCBI36
NG_008434.1:g.165269G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000168.6:c.473+1G>A MANE Select NP_000159.3:n.473+1G>A
ENST00000395925.8:c.473+1G>A MANE Select ENSP00000379258.3:n.473+1G>A
NM_000168.5:c.473+1G>A NP_000159.3:n.473+1G>A
ENST00000395925.7:c.473+1G>A ENSP00000379258.3:n.473+1G>A
ENST00000448703.5:c.473+1G>A ENSP00000406135.1:n.473+1G>A
ENST00000479210.1:n.450+1G>A
ENST00000677288.1:c.296+1G>A ENSP00000503986.1:n.296+1G>A
ENST00000677605.1:c.473+1G>A ENSP00000503743.1:n.473+1G>A
ENST00000678429.1:c.473+1G>A ENSP00000502957.1:n.473+1G>A
XM_005249703.1:c.473+1G>A XP_005249760.1:n.473+1G>A
XM_005249704.2:c.473+1G>A XP_005249761.1:n.473+1G>A
XM_011515272.1:c.473+1G>A XP_011513574.1:n.473+1G>A
XM_011515273.1:c.473+1G>A XP_011513575.1:n.473+1G>A
XM_011515274.1:c.296+1G>A XP_011513576.1:n.296+1G>A
XM_011515274.2:c.296+1G>A XP_011513576.1:n.296+1G>A
XM_017011997.1:c.470+1G>A XP_016867486.1:n.470+1G>A