Canonical Allele Identifier: CA381088525
Gene: FERMT3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64220662C>T , CM000673.2:g.64220662C>T GRCh38
NC_000011.9:g.63988134C>T , CM000673.1:g.63988134C>T GRCh37
NC_000011.8:g.63744710C>T NCBI36
NG_016360.1:g.18983C>T , LRG_180:g.18983C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000279227.10:c.1550C>T ENSP00000279227.5:p.Ala517Val
ENST00000540554.2:n.2716C>T
ENST00000541252.2:c.998C>T ENSP00000438885.2:p.Ala333Val
ENST00000541326.6:n.959C>T
ENST00000544997.6:c.1538C>T ENSP00000445778.2:p.Ala513Val
ENST00000545896.2:c.227C>T ENSP00000440209.2:p.Ala76Val
ENST00000546255.2:n.1842C>T
ENST00000698845.1:c.*733C>T ENSP00000513981.1:n.*733C>T
ENST00000698846.1:n.1784C>T
ENST00000698847.1:c.*943C>T ENSP00000513982.1:n.*943C>T
ENST00000698849.1:n.658C>T
ENST00000698850.1:n.1306C>T
ENST00000698852.1:c.1538C>T ENSP00000513984.1:p.Ala513Val
ENST00000698853.1:c.*767C>T ENSP00000513985.1:n.*767C>T
ENST00000698854.1:c.*868C>T ENSP00000513986.1:n.*868C>T
ENST00000698855.1:n.3190C>T
ENST00000698856.1:n.2884C>T
ENST00000698859.1:n.1702C>T
ENST00000698860.1:c.1550C>T ENSP00000513988.1:p.Ala517Val
ENST00000698861.1:c.1538C>T ENSP00000513989.1:p.Ala513Val
ENST00000698862.1:c.*834C>T ENSP00000513990.1:n.*834C>T
ENST00000698863.1:c.1538C>T ENSP00000513991.1:p.Ala513Val
ENST00000698864.1:n.1753C>T
ENST00000698865.1:c.1559C>T ENSP00000513992.1:p.Ala520Val
ENST00000698866.1:c.*1052C>T ENSP00000513993.1:n.*1052C>T
ENST00000698867.1:n.5513C>T
ENST00000698868.1:c.1403C>T ENSP00000513994.1:p.Ala468Val
ENST00000698869.1:c.1311+336C>T ENSP00000513995.1:n.1311+336C>T
ENST00000698870.1:c.1538C>T ENSP00000513996.1:p.Ala513Val
ENST00000698871.1:n.2061C>T
ENST00000698872.1:c.*327C>T ENSP00000513997.1:n.*327C>T
ENST00000698873.1:c.*733C>T ENSP00000513998.1:n.*733C>T
ENST00000698874.1:c.998C>T ENSP00000513999.1:p.Ala333Val
ENST00000698875.1:n.1398C>T
ENST00000698876.1:n.1586C>T
ENST00000698877.1:n.1106C>T
ENST00000698878.1:c.1532C>T ENSP00000514000.1:p.Ala511Val
ENST00000698880.1:c.1406C>T
ENST00000345728.10:c.1538C>T MANE Select ENSP00000339950.5:p.Ala513Val
ENST00000279227.9:c.1550C>T ENSP00000279227.5:p.Ala517Val
ENST00000345728.9:c.1538C>T ENSP00000339950.5:p.Ala513Val
ENST00000545896.1:c.226C>T ENSP00000440209.1:p.Pro76Ser
NM_031471.5:c.1538C>T NP_113659.3:p.Ala513Val
NM_178443.2:c.1550C>T , LRG_180t1:c.1550C>T NP_848537.1:p.Ala517Val
XM_011545294.1:c.1550C>T XP_011543596.1:p.Ala517Val
XM_011545295.1:c.1010C>T XP_011543597.1:p.Ala337Val
XM_011545296.1:c.1010C>T XP_011543598.1:p.Ala337Val
XM_011545294.3:c.1550C>T XP_011543596.1:p.Ala517Val
XM_011545295.2:c.1010C>T XP_011543597.1:p.Ala337Val
XM_017018398.2:c.1538C>T XP_016873887.1:p.Ala513Val
XM_017018399.1:c.998C>T XP_016873888.1:p.Ala333Val
NM_031471.6:c.1538C>T MANE Select NP_113659.3:p.Ala513Val
NM_001382361.1:c.1538C>T NP_001369290.1:p.Ala513Val
NM_001382362.1:c.1550C>T NP_001369291.1:p.Ala517Val
NM_001382363.1:c.998C>T NP_001369292.1:p.Ala333Val
NM_001382364.1:c.1010C>T NP_001369293.1:p.Ala337Val
NM_001382448.1:c.1538C>T NP_001369377.1:p.Ala513Val
NM_178443.3:c.1550C>T NP_848537.1:p.Ala517Val