Canonical Allele Identifier: CA367551149
Community Standard Title: NM_000168.6(GLI3):c.91G>T (p.Glu31Ter)
Gene: GLI3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.42223163C>A , CM000669.2:g.42223163C>A GRCh38
NC_000007.13:g.42262762C>A , CM000669.1:g.42262762C>A GRCh37
NC_000007.12:g.42229287C>A NCBI36
NG_008434.1:g.18857G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000168.6:c.91G>T MANE Select NP_000159.3:p.Glu31Ter
ENST00000395925.8:c.91G>T MANE Select ENSP00000379258.3:p.Glu31Ter
NM_000168.5:c.91G>T NP_000159.3:p.Glu31Ter
ENST00000395925.7:c.91G>T ENSP00000379258.3:p.Glu31Ter
ENST00000428534.1:n.220G>T
ENST00000428534.2:c.91G>T ENSP00000503957.1:p.Glu31Ter
ENST00000437480.1:c.91G>T ENSP00000407963.1:p.Glu31Ter
ENST00000448703.5:c.91G>T ENSP00000406135.1:p.Glu31Ter
ENST00000677605.1:c.91G>T ENSP00000503743.1:p.Glu31Ter
ENST00000678429.1:c.91G>T ENSP00000502957.1:p.Glu31Ter
ENST00000678978.1:c.91G>T ENSP00000503352.1:p.Glu31Ter
XM_005249703.1:c.91G>T XP_005249760.1:p.Glu31Ter
XM_005249704.2:c.91G>T XP_005249761.1:p.Glu31Ter
XM_011515272.1:c.91G>T XP_011513574.1:p.Glu31Ter
XM_011515273.1:c.91G>T XP_011513575.1:p.Glu31Ter