Canonical Allele Identifier: CA393173578

Gene: EDC3

Linked Data

• MyVariant Identifiers: chr15:g.74967306A>G (hg19) ; chr15:g.74674965A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74674965A>G , CM000677.2:g.74674965A>G	GRCh38
NC_000015.9:g.74967306A>G , CM000677.1:g.74967306A>G	GRCh37
NC_000015.8:g.72754359A>G	NCBI36
NG_054910.1:g.26081T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000315127.9:c.160T>C MANE Select	ENSP00000320503.4:p.Phe54Leu
ENST00000647659.1:c.160T>C	ENSP00000497737.1:p.Phe54Leu
ENST00000315127.8:c.160T>C	ENSP00000320503.4:p.Phe54Leu
ENST00000426797.7:c.160T>C	ENSP00000401343.3:p.Phe54Leu
ENST00000563009.5:c.160T>C	ENSP00000455503.1:p.Phe54Leu
ENST00000563292.1:c.160T>C	ENSP00000454317.1:p.Phe54Leu
ENST00000565602.5:c.160T>C	ENSP00000454885.1:p.Phe54Leu
ENST00000566219.1:c.-65-18897T>C	ENSP00000456805.1:n.-65-18897T>C
ENST00000566243.5:c.160T>C	ENSP00000457523.1:p.Phe54Leu
ENST00000566828.5:c.160T>C	ENSP00000455870.1:p.Phe54Leu
ENST00000567813.1:c.160T>C	ENSP00000457156.1:p.Phe54Leu
ENST00000568176.5:c.160T>C	ENSP00000455580.1:p.Phe54Leu
ENST00000569007.1:n.275T>C
ENST00000569561.5:c.160T>C	ENSP00000455589.1:p.Phe54Leu
ENST00000570138.5:c.160T>C	ENSP00000457170.1:p.Phe54Leu
NM_001142443.1:c.160T>C	NP_001135915.1:p.Phe54Leu
NM_001142444.1:c.160T>C	NP_001135916.1:p.Phe54Leu
NM_025083.3:c.160T>C	NP_079359.2:p.Phe54Leu
XM_011522091.1:c.160T>C	XP_011520393.1:p.Phe54Leu
NM_001142443.2:c.160T>C	NP_001135915.1:p.Phe54Leu
NM_001142444.2:c.160T>C	NP_001135916.1:p.Phe54Leu
NM_001351378.1:c.160T>C	NP_001338307.1:p.Phe54Leu
NM_001351379.1:c.-271T>C	NP_001338308.1:n.-271T>C
NM_025083.4:c.160T>C	NP_079359.2:p.Phe54Leu
XM_024450077.1:c.160T>C	XP_024305845.1:p.Phe54Leu
XM_024450078.1:c.160T>C	XP_024305846.1:p.Phe54Leu
XM_024450079.1:c.160T>C	XP_024305847.1:p.Phe54Leu
NM_025083.5:c.160T>C MANE Select	NP_079359.2:p.Phe54Leu
NM_001142443.3:c.160T>C	NP_001135915.1:p.Phe54Leu
NM_001142444.3:c.160T>C	NP_001135916.1:p.Phe54Leu
NM_001351378.2:c.160T>C	NP_001338307.1:p.Phe54Leu
NM_001351379.2:c.-271T>C	NP_001338308.1:n.-271T>C