Canonical Allele Identifier: CA2187789205

Gene: EDC3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74674964A= , CM000677.2:g.74674964A=	GRCh38
NC_000015.9:g.74967305A= , CM000677.1:g.74967305A=	GRCh37
NC_000015.8:g.72754358A=	NCBI36
NG_054910.1:g.26082T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000315127.9:c.161T= MANE Select	ENSP00000320503.4:p.Phe54=
ENST00000647659.1:c.161T=	ENSP00000497737.1:p.Phe54=
ENST00000315127.8:c.161T=	ENSP00000320503.4:p.Phe54=
ENST00000426797.7:c.161T=	ENSP00000401343.3:p.Phe54=
ENST00000563009.5:c.161T=	ENSP00000455503.1:p.Phe54=
ENST00000563292.1:c.161T=	ENSP00000454317.1:p.Phe54=
ENST00000565602.5:c.161T=	ENSP00000454885.1:p.Phe54=
ENST00000566219.1:c.-65-18896T=	ENSP00000456805.1:n.-65-18896T=
ENST00000566243.5:c.161T=	ENSP00000457523.1:p.Phe54=
ENST00000566828.5:c.161T=	ENSP00000455870.1:p.Phe54=
ENST00000567813.1:c.161T=	ENSP00000457156.1:p.Phe54=
ENST00000568176.5:c.161T=	ENSP00000455580.1:p.Phe54=
ENST00000569007.1:n.276T=
ENST00000569561.5:c.161T=	ENSP00000455589.1:p.Phe54=
ENST00000570138.5:c.161T=	ENSP00000457170.1:p.Phe54=
NM_001142443.1:c.161T=	NP_001135915.1:p.Phe54=
NM_001142444.1:c.161T=	NP_001135916.1:p.Phe54=
NM_025083.3:c.161T=	NP_079359.2:p.Phe54=
XM_011522091.1:c.161T=	XP_011520393.1:p.Phe54=
NM_001142443.2:c.161T=	NP_001135915.1:p.Phe54=
NM_001142444.2:c.161T=	NP_001135916.1:p.Phe54=
NM_001351378.1:c.161T=	NP_001338307.1:p.Phe54=
NM_001351379.1:c.-270T=	NP_001338308.1:n.-270T=
NM_025083.4:c.161T=	NP_079359.2:p.Phe54=
XM_024450077.1:c.161T=	XP_024305845.1:p.Phe54=
XM_024450078.1:c.161T=	XP_024305846.1:p.Phe54=
XM_024450079.1:c.161T=	XP_024305847.1:p.Phe54=
NM_025083.5:c.161T= MANE Select	NP_079359.2:p.Phe54=
NM_001142443.3:c.161T=	NP_001135915.1:p.Phe54=
NM_001142444.3:c.161T=	NP_001135916.1:p.Phe54=
NM_001351378.2:c.161T=	NP_001338307.1:p.Phe54=
NM_001351379.2:c.-270T=	NP_001338308.1:n.-270T=