Canonical Allele Identifier: CA381088123
Gene: FERMT3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64220605C>A , CM000673.2:g.64220605C>A GRCh38
NC_000011.9:g.63988077C>A , CM000673.1:g.63988077C>A GRCh37
NC_000011.8:g.63744653C>A NCBI36
NG_016360.1:g.18926C>A , LRG_180:g.18926C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000279227.10:c.1493C>A ENSP00000279227.5:p.Ala498Asp
ENST00000540554.2:n.2659C>A
ENST00000541252.2:c.941C>A ENSP00000438885.2:p.Ala314Asp
ENST00000541326.6:n.902C>A
ENST00000544997.6:c.1481C>A ENSP00000445778.2:p.Ala494Asp
ENST00000545896.2:c.170C>A ENSP00000440209.2:p.Ala57Asp
ENST00000546255.2:n.1785C>A
ENST00000698845.1:c.*676C>A ENSP00000513981.1:n.*676C>A
ENST00000698846.1:n.1727C>A
ENST00000698847.1:c.*886C>A ENSP00000513982.1:n.*886C>A
ENST00000698849.1:n.601C>A
ENST00000698850.1:n.1249C>A
ENST00000698852.1:c.1481C>A ENSP00000513984.1:p.Ala494Asp
ENST00000698853.1:c.*710C>A ENSP00000513985.1:n.*710C>A
ENST00000698854.1:c.*811C>A ENSP00000513986.1:n.*811C>A
ENST00000698855.1:n.3133C>A
ENST00000698856.1:n.2827C>A
ENST00000698859.1:n.1645C>A
ENST00000698860.1:c.1493C>A ENSP00000513988.1:p.Ala498Asp
ENST00000698861.1:c.1481C>A ENSP00000513989.1:p.Ala494Asp
ENST00000698862.1:c.*777C>A ENSP00000513990.1:n.*777C>A
ENST00000698863.1:c.1481C>A ENSP00000513991.1:p.Ala494Asp
ENST00000698864.1:n.1696C>A
ENST00000698865.1:c.1502C>A ENSP00000513992.1:p.Ala501Asp
ENST00000698866.1:c.*995C>A ENSP00000513993.1:n.*995C>A
ENST00000698867.1:n.5456C>A
ENST00000698868.1:c.1346C>A ENSP00000513994.1:p.Ala449Asp
ENST00000698869.1:c.1311+279C>A ENSP00000513995.1:n.1311+279C>A
ENST00000698870.1:c.1481C>A ENSP00000513996.1:p.Ala494Asp
ENST00000698871.1:n.2004C>A
ENST00000698872.1:c.*270C>A ENSP00000513997.1:n.*270C>A
ENST00000698873.1:c.*676C>A ENSP00000513998.1:n.*676C>A
ENST00000698874.1:c.941C>A ENSP00000513999.1:p.Ala314Asp
ENST00000698875.1:n.1341C>A
ENST00000698876.1:n.1529C>A
ENST00000698877.1:n.1049C>A
ENST00000698878.1:c.1475C>A ENSP00000514000.1:p.Ala492Asp
ENST00000698880.1:c.1349C>A
ENST00000345728.10:c.1481C>A MANE Select ENSP00000339950.5:p.Ala494Asp
ENST00000279227.9:c.1493C>A ENSP00000279227.5:p.Ala498Asp
ENST00000345728.9:c.1481C>A ENSP00000339950.5:p.Ala494Asp
ENST00000545896.1:c.169C>A ENSP00000440209.1:p.Pro57Thr
NM_031471.5:c.1481C>A NP_113659.3:p.Ala494Asp
NM_178443.2:c.1493C>A , LRG_180t1:c.1493C>A NP_848537.1:p.Ala498Asp
XM_011545294.1:c.1493C>A XP_011543596.1:p.Ala498Asp
XM_011545295.1:c.953C>A XP_011543597.1:p.Ala318Asp
XM_011545296.1:c.953C>A XP_011543598.1:p.Ala318Asp
XM_011545294.3:c.1493C>A XP_011543596.1:p.Ala498Asp
XM_011545295.2:c.953C>A XP_011543597.1:p.Ala318Asp
XM_017018398.2:c.1481C>A XP_016873887.1:p.Ala494Asp
XM_017018399.1:c.941C>A XP_016873888.1:p.Ala314Asp
NM_031471.6:c.1481C>A MANE Select NP_113659.3:p.Ala494Asp
NM_001382361.1:c.1481C>A NP_001369290.1:p.Ala494Asp
NM_001382362.1:c.1493C>A NP_001369291.1:p.Ala498Asp
NM_001382363.1:c.941C>A NP_001369292.1:p.Ala314Asp
NM_001382364.1:c.953C>A NP_001369293.1:p.Ala318Asp
NM_001382448.1:c.1481C>A NP_001369377.1:p.Ala494Asp
NM_178443.3:c.1493C>A NP_848537.1:p.Ala498Asp