Canonical Allele Identifier: CA7659057

Gene: EDC3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74655920A>C , CM000677.2:g.74655920A>C	GRCh38
NC_000015.9:g.74948261A>C , CM000677.1:g.74948261A>C	GRCh37
NC_000015.8:g.72735314A>C	NCBI36
NG_054910.1:g.45126T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315127.9:c.633T>G MANE Select	ENSP00000320503.4:p.Ala211=
ENST00000647659.1:c.633T>G	ENSP00000497737.1:p.Ala211=
ENST00000315127.8:c.633T>G	ENSP00000320503.4:p.Ala211=
ENST00000426797.7:c.633T>G	ENSP00000401343.3:p.Ala211=
ENST00000562974.1:c.146-15301T>G	ENSP00000457128.1:n.146-15301T>G
ENST00000563009.5:c.633T>G	ENSP00000455503.1:p.Ala211=
ENST00000565602.5:c.*139T>G	ENSP00000454885.1:n.*139T>G
ENST00000566219.1:c.84T>G	ENSP00000456805.1:p.Ala28=
ENST00000568176.5:c.633T>G	ENSP00000455580.1:p.Ala211=
NM_001142443.1:c.633T>G	NP_001135915.1:p.Ala211=
NM_001142444.1:c.633T>G	NP_001135916.1:p.Ala211=
NM_025083.3:c.633T>G	NP_079359.2:p.Ala211=
XM_011522091.1:c.633T>G	XP_011520393.1:p.Ala211=
XM_011522092.1:c.84T>G	XP_011520394.1:p.Ala28=
NM_001142443.2:c.633T>G	NP_001135915.1:p.Ala211=
NM_001142444.2:c.633T>G	NP_001135916.1:p.Ala211=
NM_001351378.1:c.633T>G	NP_001338307.1:p.Ala211=
NM_001351379.1:c.198T>G	NP_001338308.1:p.Ala66=
NM_025083.4:c.633T>G	NP_079359.2:p.Ala211=
XM_011522092.3:c.84T>G	XP_011520394.1:p.Ala28=
XM_024450077.1:c.633T>G	XP_024305845.1:p.Ala211=
XM_024450078.1:c.633T>G	XP_024305846.1:p.Ala211=
XM_024450079.1:c.633T>G	XP_024305847.1:p.Ala211=
NM_025083.5:c.633T>G MANE Select	NP_079359.2:p.Ala211=
NM_001142443.3:c.633T>G	NP_001135915.1:p.Ala211=
NM_001142444.3:c.633T>G	NP_001135916.1:p.Ala211=
NM_001351378.2:c.633T>G	NP_001338307.1:p.Ala211=
NM_001351379.2:c.198T>G	NP_001338308.1:p.Ala66=