Canonical Allele Identifier: CA7659129
Gene: EDC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74671683G>T , CM000677.2:g.74671683G>T GRCh38
NC_000015.9:g.74964024G>T , CM000677.1:g.74964024G>T GRCh37
NC_000015.8:g.72751077G>T NCBI36
NG_054910.1:g.29363C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000315127.9:c.256C>A MANE Select ENSP00000320503.4:p.Pro86Thr
ENST00000647659.1:c.256C>A ENSP00000497737.1:p.Pro86Thr
ENST00000315127.8:c.256C>A ENSP00000320503.4:p.Pro86Thr
ENST00000426797.7:c.256C>A ENSP00000401343.3:p.Pro86Thr
ENST00000563009.5:c.256C>A ENSP00000455503.1:p.Pro86Thr
ENST00000563292.1:c.256C>A ENSP00000454317.1:p.Pro86Thr
ENST00000565602.5:c.164+3278C>A ENSP00000454885.1:n.164+3278C>A
ENST00000566219.1:c.-65-15615C>A ENSP00000456805.1:n.-65-15615C>A
ENST00000566243.5:c.256C>A ENSP00000457523.1:p.Pro86Thr
ENST00000566828.5:c.256C>A ENSP00000455870.1:p.Pro86Thr
ENST00000568176.5:c.256C>A ENSP00000455580.1:p.Pro86Thr
ENST00000569561.5:c.256C>A ENSP00000455589.1:p.Pro86Thr
ENST00000570138.5:c.256C>A ENSP00000457170.1:p.Pro86Thr
NM_001142443.1:c.256C>A NP_001135915.1:p.Pro86Thr
NM_001142444.1:c.256C>A NP_001135916.1:p.Pro86Thr
NM_025083.3:c.256C>A NP_079359.2:p.Pro86Thr
XM_011522091.1:c.256C>A XP_011520393.1:p.Pro86Thr
NM_001142443.2:c.256C>A NP_001135915.1:p.Pro86Thr
NM_001142444.2:c.256C>A NP_001135916.1:p.Pro86Thr
NM_001351378.1:c.256C>A NP_001338307.1:p.Pro86Thr
NM_001351379.1:c.-180C>A NP_001338308.1:n.-180C>A
NM_025083.4:c.256C>A NP_079359.2:p.Pro86Thr
XM_024450077.1:c.256C>A XP_024305845.1:p.Pro86Thr
XM_024450078.1:c.256C>A XP_024305846.1:p.Pro86Thr
XM_024450079.1:c.256C>A XP_024305847.1:p.Pro86Thr
NM_025083.5:c.256C>A MANE Select NP_079359.2:p.Pro86Thr
NM_001142443.3:c.256C>A NP_001135915.1:p.Pro86Thr
NM_001142444.3:c.256C>A NP_001135916.1:p.Pro86Thr
NM_001351378.2:c.256C>A NP_001338307.1:p.Pro86Thr
NM_001351379.2:c.-180C>A NP_001338308.1:n.-180C>A