Canonical Allele Identifier: CA580165
Community Standard Title: NM_001105562.3(UBE4B):c.2317T>G (p.Cys773Gly)
Gene: UBE4B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.10137159T>G , CM000663.2:g.10137159T>G GRCh38
NC_000001.10:g.10197217T>G , CM000663.1:g.10197217T>G GRCh37
NC_000001.9:g.10119804T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001105562.3:c.2317T>G MANE Select NP_001099032.1:p.Cys773Gly
ENST00000343090.11:c.2317T>G MANE Select ENSP00000343001.6:p.Cys773Gly
NM_001105562.2:c.2317T>G NP_001099032.1:p.Cys773Gly
NM_006048.4:c.1930T>G NP_006039.2:p.Cys644Gly
NM_006048.5:c.1930T>G NP_006039.2:p.Cys644Gly
ENST00000253251.12:c.1930T>G ENSP00000253251.8:p.Cys644Gly
ENST00000343090.10:c.2317T>G ENSP00000343001.6:p.Cys773Gly
ENST00000466379.1:n.1639+1973T>G
ENST00000470736.1:c.681T>G
ENST00000672724.1:c.2470T>G ENSP00000500453.1:p.Cys824Gly
XM_005263422.1:c.2470T>G XP_005263479.1:p.Cys824Gly
XM_005263422.2:c.2470T>G XP_005263479.1:p.Cys824Gly
XM_011540488.1:c.2122T>G XP_011538790.1:p.Cys708Gly
XM_011540488.3:c.2122T>G XP_011538790.1:p.Cys708Gly
XM_011540489.1:c.2470T>G XP_011538791.1:p.Cys824Gly
XM_011540489.3:c.2470T>G XP_011538791.1:p.Cys824Gly
XM_011540490.1:c.2470T>G XP_011538792.1:p.Cys824Gly
XM_011540490.2:c.2470T>G XP_011538792.1:p.Cys824Gly
XM_017000035.2:c.2053T>G XP_016855524.1:p.Cys685Gly
XM_017000036.2:c.1582T>G XP_016855525.1:p.Cys528Gly
XR_001736907.2:n.2643T>G
XR_946516.1:n.2442T>G
XR_946516.3:n.2643T>G