Canonical Allele Identifier: CA7658966

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74635499G>T , CM000677.2:g.74635499G>T GRCh38
NC_000015.9:g.74927840G>T , CM000677.1:g.74927840G>T GRCh37
NC_000015.8:g.72714893G>T NCBI36
NG_054910.1:g.65547C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000315127.9:c.1102C>A (EDC3) MANE Select ENSP00000320503.4:p.Leu368Met
ENST00000647659.1:c.1102C>A (EDC3) ENSP00000497737.1:p.Leu368Met
ENST00000315127.8:c.1102C>A (EDC3) ENSP00000320503.4:p.Leu368Met
ENST00000426797.7:c.1102C>A (EDC3) ENSP00000401343.3:p.Leu368Met
ENST00000561673.1:n.359+283G>T (CLK3)
ENST00000562174.5:c.443C>A (EDC3)
ENST00000563418.2:c.583G>T (CLK3)
ENST00000565602.5:c.*608C>A (EDC3) ENSP00000454885.1:n.*608C>A
ENST00000568176.5:c.1102C>A (EDC3) ENSP00000455580.1:p.Leu368Met
ENST00000569606.1:n.229C>A (EDC3)
NM_001142443.1:c.1102C>A (EDC3) NP_001135915.1:p.Leu368Met
NM_001142444.1:c.1102C>A (EDC3) NP_001135916.1:p.Leu368Met
NM_025083.3:c.1102C>A (EDC3) NP_079359.2:p.Leu368Met
XM_011522091.1:c.1102C>A (EDC3) XP_011520393.1:p.Leu368Met
XM_011522092.1:c.553C>A (EDC3) XP_011520394.1:p.Leu185Met
XR_931746.1:n.1916+283G>T (CLK3)
NM_001142443.2:c.1102C>A (EDC3) NP_001135915.1:p.Leu368Met
NM_001142444.2:c.1102C>A (EDC3) NP_001135916.1:p.Leu368Met
NM_001351378.1:c.1102C>A (EDC3) NP_001338307.1:p.Leu368Met
NM_001351379.1:c.667C>A (EDC3) NP_001338308.1:p.Leu223Met
NM_025083.4:c.1102C>A (EDC3) NP_079359.2:p.Leu368Met
XM_011522092.3:c.553C>A (EDC3) XP_011520394.1:p.Leu185Met
XM_024450077.1:c.1102C>A (EDC3) XP_024305845.1:p.Leu368Met
XM_024450078.1:c.1102C>A (EDC3) XP_024305846.1:p.Leu368Met
XM_024450079.1:c.1102C>A (EDC3) XP_024305847.1:p.Leu368Met
XR_001751074.1:n.2413+283G>T (CLK3)
XR_001751075.1:n.2320+283G>T (CLK3)
NM_025083.5:c.1102C>A (EDC3) MANE Select NP_079359.2:p.Leu368Met
NM_001142443.3:c.1102C>A (EDC3) NP_001135915.1:p.Leu368Met
NM_001142444.3:c.1102C>A (EDC3) NP_001135916.1:p.Leu368Met
NM_001351378.2:c.1102C>A (EDC3) NP_001338307.1:p.Leu368Met
NM_001351379.2:c.667C>A (EDC3) NP_001338308.1:p.Leu223Met