Canonical Allele Identifier: CA7658872

Gene: EDC3 CLK3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74632618A>G , CM000677.2:g.74632618A>G	GRCh38
NC_000015.9:g.74924959A>G , CM000677.1:g.74924959A>G	GRCh37
NC_000015.8:g.72712012A>G	NCBI36
NG_054910.1:g.68428T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315127.9:c.1521T>C (EDC3) MANE Select	ENSP00000320503.4:p.Ser507=
ENST00000647659.1:c.1521T>C (EDC3)	ENSP00000497737.1:p.Ser507=
ENST00000315127.8:c.1521T>C (EDC3)	ENSP00000320503.4:p.Ser507=
ENST00000426797.7:c.1521T>C (EDC3)	ENSP00000401343.3:p.Ser507=
ENST00000561673.1:n.241-2480A>G (CLK3)
ENST00000563418.2:c.182-2480A>G (CLK3)
ENST00000565602.5:c.*1027T>C (EDC3)	ENSP00000454885.1:n.*1027T>C
ENST00000568176.5:c.1521T>C (EDC3)	ENSP00000455580.1:p.Ser507=
NM_001142443.1:c.1521T>C (EDC3)	NP_001135915.1:p.Ser507=
NM_001142444.1:c.1521T>C (EDC3)	NP_001135916.1:p.Ser507=
NM_025083.3:c.1521T>C (EDC3)	NP_079359.2:p.Ser507=
XM_011521207.1:c.1783-2480A>G (CLK3)	XP_011519509.1:n.1783-2480A>G
XM_011522091.1:c.1521T>C (EDC3)	XP_011520393.1:p.Ser507=
XM_011522092.1:c.972T>C (EDC3)	XP_011520394.1:p.Ser324=
XR_931746.1:n.1798-2480A>G (CLK3)
NM_001142443.2:c.1521T>C (EDC3)	NP_001135915.1:p.Ser507=
NM_001142444.2:c.1521T>C (EDC3)	NP_001135916.1:p.Ser507=
NM_001351378.1:c.1521T>C (EDC3)	NP_001338307.1:p.Ser507=
NM_001351379.1:c.1086T>C (EDC3)	NP_001338308.1:p.Ser362=
NM_025083.4:c.1521T>C (EDC3)	NP_079359.2:p.Ser507=
XM_011522092.3:c.972T>C (EDC3)	XP_011520394.1:p.Ser324=
XM_024450077.1:c.1521T>C (EDC3)	XP_024305845.1:p.Ser507=
XM_024450078.1:c.1521T>C (EDC3)	XP_024305846.1:p.Ser507=
XM_024450079.1:c.1521T>C (EDC3)	XP_024305847.1:p.Ser507=
XR_001751074.1:n.2295-2480A>G (CLK3)
XR_001751075.1:n.2202-2480A>G (CLK3)
NM_025083.5:c.1521T>C (EDC3) MANE Select	NP_079359.2:p.Ser507=
NM_001142443.3:c.1521T>C (EDC3)	NP_001135915.1:p.Ser507=
NM_001142444.3:c.1521T>C (EDC3)	NP_001135916.1:p.Ser507=
NM_001351378.2:c.1521T>C (EDC3)	NP_001338307.1:p.Ser507=
NM_001351379.2:c.1086T>C (EDC3)	NP_001338308.1:p.Ser362=