Canonical Allele Identifier: CA381088194
Gene: FERMT3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64220613C>A , CM000673.2:g.64220613C>A GRCh38
NC_000011.9:g.63988085C>A , CM000673.1:g.63988085C>A GRCh37
NC_000011.8:g.63744661C>A NCBI36
NG_016360.1:g.18934C>A , LRG_180:g.18934C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000279227.10:c.1501C>A ENSP00000279227.5:p.Leu501Ile
ENST00000540554.2:n.2667C>A
ENST00000541252.2:c.949C>A ENSP00000438885.2:p.Leu317Ile
ENST00000541326.6:n.910C>A
ENST00000544997.6:c.1489C>A ENSP00000445778.2:p.Leu497Ile
ENST00000545896.2:c.178C>A ENSP00000440209.2:p.Leu60Ile
ENST00000546255.2:n.1793C>A
ENST00000698845.1:c.*684C>A ENSP00000513981.1:n.*684C>A
ENST00000698846.1:n.1735C>A
ENST00000698847.1:c.*894C>A ENSP00000513982.1:n.*894C>A
ENST00000698849.1:n.609C>A
ENST00000698850.1:n.1257C>A
ENST00000698852.1:c.1489C>A ENSP00000513984.1:p.Leu497Ile
ENST00000698853.1:c.*718C>A ENSP00000513985.1:n.*718C>A
ENST00000698854.1:c.*819C>A ENSP00000513986.1:n.*819C>A
ENST00000698855.1:n.3141C>A
ENST00000698856.1:n.2835C>A
ENST00000698859.1:n.1653C>A
ENST00000698860.1:c.1501C>A ENSP00000513988.1:p.Leu501Ile
ENST00000698861.1:c.1489C>A ENSP00000513989.1:p.Leu497Ile
ENST00000698862.1:c.*785C>A ENSP00000513990.1:n.*785C>A
ENST00000698863.1:c.1489C>A ENSP00000513991.1:p.Leu497Ile
ENST00000698864.1:n.1704C>A
ENST00000698865.1:c.1510C>A ENSP00000513992.1:p.Leu504Ile
ENST00000698866.1:c.*1003C>A ENSP00000513993.1:n.*1003C>A
ENST00000698867.1:n.5464C>A
ENST00000698868.1:c.1354C>A ENSP00000513994.1:p.Leu452Ile
ENST00000698869.1:c.1311+287C>A ENSP00000513995.1:n.1311+287C>A
ENST00000698870.1:c.1489C>A ENSP00000513996.1:p.Leu497Ile
ENST00000698871.1:n.2012C>A
ENST00000698872.1:c.*278C>A ENSP00000513997.1:n.*278C>A
ENST00000698873.1:c.*684C>A ENSP00000513998.1:n.*684C>A
ENST00000698874.1:c.949C>A ENSP00000513999.1:p.Leu317Ile
ENST00000698875.1:n.1349C>A
ENST00000698876.1:n.1537C>A
ENST00000698877.1:n.1057C>A
ENST00000698878.1:c.1483C>A ENSP00000514000.1:p.Leu495Ile
ENST00000698880.1:c.1357C>A
ENST00000345728.10:c.1489C>A MANE Select ENSP00000339950.5:p.Leu497Ile
ENST00000279227.9:c.1501C>A ENSP00000279227.5:p.Leu501Ile
ENST00000345728.9:c.1489C>A ENSP00000339950.5:p.Leu497Ile
ENST00000545896.1:c.177C>A ENSP00000440209.1:p.Ala59=
NM_031471.5:c.1489C>A NP_113659.3:p.Leu497Ile
NM_178443.2:c.1501C>A , LRG_180t1:c.1501C>A NP_848537.1:p.Leu501Ile
XM_011545294.1:c.1501C>A XP_011543596.1:p.Leu501Ile
XM_011545295.1:c.961C>A XP_011543597.1:p.Leu321Ile
XM_011545296.1:c.961C>A XP_011543598.1:p.Leu321Ile
XM_011545294.3:c.1501C>A XP_011543596.1:p.Leu501Ile
XM_011545295.2:c.961C>A XP_011543597.1:p.Leu321Ile
XM_017018398.2:c.1489C>A XP_016873887.1:p.Leu497Ile
XM_017018399.1:c.949C>A XP_016873888.1:p.Leu317Ile
NM_031471.6:c.1489C>A MANE Select NP_113659.3:p.Leu497Ile
NM_001382361.1:c.1489C>A NP_001369290.1:p.Leu497Ile
NM_001382362.1:c.1501C>A NP_001369291.1:p.Leu501Ile
NM_001382363.1:c.949C>A NP_001369292.1:p.Leu317Ile
NM_001382364.1:c.961C>A NP_001369293.1:p.Leu321Ile
NM_001382448.1:c.1489C>A NP_001369377.1:p.Leu497Ile
NM_178443.3:c.1501C>A NP_848537.1:p.Leu501Ile