Canonical Allele Identifier: CA4128527
Community Standard Title: NM_152558.5(IQCE):c.324C>T (p.Gly108=)
Gene: IQCE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.2572256C>T , CM000669.2:g.2572256C>T GRCh38
NC_000007.13:g.2611890C>T , CM000669.1:g.2611890C>T GRCh37
NC_000007.12:g.2578416C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_152558.5:c.324C>T MANE Select NP_689771.3:p.Gly108=
ENST00000402050.7:c.324C>T MANE Select ENSP00000385597.2:p.Gly108=
NM_001287499.1:c.324C>T NP_001274428.1:p.Gly108=
NM_001287499.2:c.324C>T NP_001274428.1:p.Gly108=
NM_001287500.1:c.276C>T NP_001274429.1:p.Gly92=
NM_001287500.2:c.276C>T NP_001274429.1:p.Gly92=
NM_001287501.1:c.129C>T NP_001274430.1:p.Gly43=
NM_001287501.2:c.129C>T NP_001274430.1:p.Gly43=
NM_001287502.1:c.129C>T NP_001274431.1:p.Gly43=
NM_001287502.2:c.129C>T NP_001274431.1:p.Gly43=
NM_152558.4:c.324C>T NP_689771.3:p.Gly108=
ENST00000325979.11:c.129C>T ENSP00000313772.7:p.Gly43=
ENST00000325997.13:c.*101C>T ENSP00000314011.10:n.*101C>T
ENST00000402050.6:c.324C>T ENSP00000385597.2:p.Gly108=
ENST00000404984.5:c.171C>T ENSP00000385945.1:p.Gly57=
ENST00000415271.6:c.324C>T ENSP00000404643.1:p.Gly108=
ENST00000422276.3:c.129C>T ENSP00000402108.3:p.Gly43=
ENST00000423395.5:c.129C>T ENSP00000413570.1:p.Gly43=
ENST00000438376.6:c.276C>T ENSP00000396178.2:p.Gly92=
ENST00000470731.5:n.458C>T
ENST00000476665.5:c.324C>T ENSP00000480715.1:p.Gly108=
ENST00000611775.4:c.276C>T ENSP00000480668.1:p.Gly92=
ENST00000623361.3:c.129C>T ENSP00000485601.1:p.Gly43=
XM_006715676.2:c.129C>T XP_006715739.1:p.Gly43=
XM_006715677.2:c.-41-1162C>T XP_006715740.1:n.-41-1162C>T
XM_011515242.1:c.259+602C>T XP_011513544.1:n.259+602C>T
XM_011515243.1:c.129C>T XP_011513545.1:p.Gly43=
XM_017011902.1:c.345C>T XP_016867391.1:p.Gly115=
XM_017011903.1:c.129C>T XP_016867392.1:p.Gly43=
XM_024446698.1:c.129C>T XP_024302466.1:p.Gly43=
XM_024446699.1:c.-41-1162C>T XP_024302467.1:n.-41-1162C>T
XM_024446700.1:c.-41-1162C>T XP_024302468.1:n.-41-1162C>T