Canonical Allele Identifier: CA371181901
Community Standard Title: NM_024593.4(CLXN):c.367G>T (p.Glu123Ter)
Gene: CLXN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.48729824C>A , CM000670.2:g.48729824C>A GRCh38
NC_000008.10:g.49642383C>A , CM000670.1:g.49642383C>A GRCh37
NC_000008.9:g.49804936C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_024593.4:c.367G>T MANE Select NP_078869.1:p.Glu123Ter
ENST00000262103.8:c.367G>T MANE Select ENSP00000262103.3:p.Glu123Ter
NM_001142857.1:c.211G>T NP_001136329.1:p.Glu71Ter
NM_001142857.2:c.211G>T NP_001136329.1:p.Glu71Ter
NM_001363973.1:c.211G>T NP_001350902.1:p.Glu71Ter
NM_001363973.2:c.211G>T NP_001350902.1:p.Glu71Ter
NM_001363973.3:c.211G>T NP_001350902.1:p.Glu71Ter
NM_001363974.1:c.211G>T NP_001350903.1:p.Glu71Ter
NM_001363974.2:c.211G>T NP_001350903.1:p.Glu71Ter
NM_024593.3:c.367G>T NP_078869.1:p.Glu123Ter
NR_024605.1:n.324G>T
NR_024605.2:n.281G>T
NR_024605.3:n.281G>T
NR_157026.1:n.324G>T
NR_157027.1:n.326-712G>T
NR_157027.2:n.326-712G>T
ENST00000262103.7:c.367G>T ENSP00000262103.3:p.Glu123Ter
ENST00000433756.1:c.211G>T ENSP00000400873.1:p.Glu71Ter
ENST00000519425.1:n.302G>T
ENST00000521002.5:n.292-712G>T
ENST00000521701.5:c.164G>T ENSP00000430374.1:p.Ter55Leu
ENST00000521721.1:n.521G>T
ENST00000522254.5:c.119G>T
ENST00000523092.5:c.211G>T ENSP00000430765.1:p.Glu71Ter
XM_005251303.1:c.367G>T XP_005251360.1:p.Glu123Ter
XM_005251304.2:c.211G>T XP_005251361.1:p.Glu71Ter
XM_011517589.1:c.367G>T XP_011515891.1:p.Glu123Ter
XM_011517590.1:c.181G>T XP_011515892.1:p.Glu61Ter
XM_011517591.1:c.181G>T XP_011515893.1:p.Glu61Ter
XM_011517591.2:c.181G>T XP_011515893.1:p.Glu61Ter
XM_017013827.1:c.181G>T XP_016869316.1:p.Glu61Ter
XM_017013828.1:c.320G>T XP_016869317.1:p.Ter107Leu
XM_024447270.1:c.367G>T XP_024303038.1:p.Glu123Ter
XM_024447271.1:c.367G>T XP_024303039.1:p.Glu123Ter
XM_024447272.1:c.367G>T XP_024303040.1:p.Glu123Ter
XM_024447273.1:c.181G>T XP_024303041.1:p.Glu61Ter
XM_024447274.1:c.181G>T XP_024303042.1:p.Glu61Ter
XR_002956645.1:n.484G>T