Canonical Allele Identifier: CA157219006
Community Standard Title: NM_000168.6(GLI3):c.463C>T (p.Pro155Ser)
Gene: GLI3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.42076762G>A , CM000669.2:g.42076762G>A GRCh38
NC_000007.13:g.42116361G>A , CM000669.1:g.42116361G>A GRCh37
NC_000007.12:g.42082886G>A NCBI36
NG_008434.1:g.165258C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000168.6:c.463C>T MANE Select NP_000159.3:p.Pro155Ser
ENST00000395925.8:c.463C>T MANE Select ENSP00000379258.3:p.Pro155Ser
NM_000168.5:c.463C>T NP_000159.3:p.Pro155Ser
ENST00000395925.7:c.463C>T ENSP00000379258.3:p.Pro155Ser
ENST00000448703.5:c.463C>T ENSP00000406135.1:p.Pro155Ser
ENST00000479210.1:n.440C>T
ENST00000677288.1:c.286C>T ENSP00000503986.1:p.Pro96Ser
ENST00000677605.1:c.463C>T ENSP00000503743.1:p.Pro155Ser
ENST00000678429.1:c.463C>T ENSP00000502957.1:p.Pro155Ser
XM_005249703.1:c.463C>T XP_005249760.1:p.Pro155Ser
XM_005249704.2:c.463C>T XP_005249761.1:p.Pro155Ser
XM_011515272.1:c.463C>T XP_011513574.1:p.Pro155Ser
XM_011515273.1:c.463C>T XP_011513575.1:p.Pro155Ser
XM_011515274.1:c.286C>T XP_011513576.1:p.Pro96Ser
XM_011515274.2:c.286C>T XP_011513576.1:p.Pro96Ser
XM_017011997.1:c.460C>T XP_016867486.1:p.Pro154Ser