Canonical Allele Identifier: CA491487938

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74632729G>A , CM000677.2:g.74632729G>A GRCh38
NC_000015.9:g.74925070G>A , CM000677.1:g.74925070G>A GRCh37
NC_000015.8:g.72712123G>A NCBI36
NG_054910.1:g.68317C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000315127.9:c.1410C>T (EDC3) MANE Select ENSP00000320503.4:p.His470=
ENST00000647659.1:c.1410C>T (EDC3) ENSP00000497737.1:p.His470=
ENST00000315127.8:c.1410C>T (EDC3) ENSP00000320503.4:p.His470=
ENST00000426797.7:c.1410C>T (EDC3) ENSP00000401343.3:p.His470=
ENST00000561673.1:n.241-2369G>A (CLK3)
ENST00000563418.2:c.182-2369G>A (CLK3)
ENST00000565602.5:c.*916C>T (EDC3) ENSP00000454885.1:n.*916C>T
ENST00000568176.5:c.1410C>T (EDC3) ENSP00000455580.1:p.His470=
NM_001142443.1:c.1410C>T (EDC3) NP_001135915.1:p.His470=
NM_001142444.1:c.1410C>T (EDC3) NP_001135916.1:p.His470=
NM_025083.3:c.1410C>T (EDC3) NP_079359.2:p.His470=
XM_011521207.1:c.1783-2369G>A (CLK3) XP_011519509.1:n.1783-2369G>A
XM_011522091.1:c.1410C>T (EDC3) XP_011520393.1:p.His470=
XM_011522092.1:c.861C>T (EDC3) XP_011520394.1:p.His287=
XR_931746.1:n.1798-2369G>A (CLK3)
NM_001142443.2:c.1410C>T (EDC3) NP_001135915.1:p.His470=
NM_001142444.2:c.1410C>T (EDC3) NP_001135916.1:p.His470=
NM_001351378.1:c.1410C>T (EDC3) NP_001338307.1:p.His470=
NM_001351379.1:c.975C>T (EDC3) NP_001338308.1:p.His325=
NM_025083.4:c.1410C>T (EDC3) NP_079359.2:p.His470=
XM_011522092.3:c.861C>T (EDC3) XP_011520394.1:p.His287=
XM_024450077.1:c.1410C>T (EDC3) XP_024305845.1:p.His470=
XM_024450078.1:c.1410C>T (EDC3) XP_024305846.1:p.His470=
XM_024450079.1:c.1410C>T (EDC3) XP_024305847.1:p.His470=
XR_001751074.1:n.2295-2369G>A (CLK3)
XR_001751075.1:n.2202-2369G>A (CLK3)
NM_025083.5:c.1410C>T (EDC3) MANE Select NP_079359.2:p.His470=
NM_001142443.3:c.1410C>T (EDC3) NP_001135915.1:p.His470=
NM_001142444.3:c.1410C>T (EDC3) NP_001135916.1:p.His470=
NM_001351378.2:c.1410C>T (EDC3) NP_001338307.1:p.His470=
NM_001351379.2:c.975C>T (EDC3) NP_001338308.1:p.His325=