Canonical Allele Identifier: CA381088023
Gene: FERMT3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64220593C>T , CM000673.2:g.64220593C>T GRCh38
NC_000011.9:g.63988065C>T , CM000673.1:g.63988065C>T GRCh37
NC_000011.8:g.63744641C>T NCBI36
NG_016360.1:g.18914C>T , LRG_180:g.18914C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000279227.10:c.1481C>T ENSP00000279227.5:p.Pro494Leu
ENST00000540554.2:n.2647C>T
ENST00000541252.2:c.929C>T ENSP00000438885.2:p.Pro310Leu
ENST00000541326.6:n.890C>T
ENST00000544997.6:c.1469C>T ENSP00000445778.2:p.Pro490Leu
ENST00000545896.2:c.158C>T ENSP00000440209.2:p.Pro53Leu
ENST00000546255.2:n.1773C>T
ENST00000698845.1:c.*664C>T ENSP00000513981.1:n.*664C>T
ENST00000698846.1:n.1715C>T
ENST00000698847.1:c.*874C>T ENSP00000513982.1:n.*874C>T
ENST00000698849.1:n.589C>T
ENST00000698850.1:n.1237C>T
ENST00000698852.1:c.1469C>T ENSP00000513984.1:p.Pro490Leu
ENST00000698853.1:c.*698C>T ENSP00000513985.1:n.*698C>T
ENST00000698854.1:c.*799C>T ENSP00000513986.1:n.*799C>T
ENST00000698855.1:n.3121C>T
ENST00000698856.1:n.2815C>T
ENST00000698859.1:n.1633C>T
ENST00000698860.1:c.1481C>T ENSP00000513988.1:p.Pro494Leu
ENST00000698861.1:c.1469C>T ENSP00000513989.1:p.Pro490Leu
ENST00000698862.1:c.*765C>T ENSP00000513990.1:n.*765C>T
ENST00000698863.1:c.1469C>T ENSP00000513991.1:p.Pro490Leu
ENST00000698864.1:n.1684C>T
ENST00000698865.1:c.1490C>T ENSP00000513992.1:p.Pro497Leu
ENST00000698866.1:c.*983C>T ENSP00000513993.1:n.*983C>T
ENST00000698867.1:n.5444C>T
ENST00000698868.1:c.1334C>T ENSP00000513994.1:p.Pro445Leu
ENST00000698869.1:c.1311+267C>T ENSP00000513995.1:n.1311+267C>T
ENST00000698870.1:c.1469C>T ENSP00000513996.1:p.Pro490Leu
ENST00000698871.1:n.1992C>T
ENST00000698872.1:c.*258C>T ENSP00000513997.1:n.*258C>T
ENST00000698873.1:c.*664C>T ENSP00000513998.1:n.*664C>T
ENST00000698874.1:c.929C>T ENSP00000513999.1:p.Pro310Leu
ENST00000698875.1:n.1329C>T
ENST00000698876.1:n.1517C>T
ENST00000698877.1:n.1037C>T
ENST00000698878.1:c.1463C>T ENSP00000514000.1:p.Pro488Leu
ENST00000698880.1:c.1337C>T
ENST00000345728.10:c.1469C>T MANE Select ENSP00000339950.5:p.Pro490Leu
ENST00000279227.9:c.1481C>T ENSP00000279227.5:p.Pro494Leu
ENST00000345728.9:c.1469C>T ENSP00000339950.5:p.Pro490Leu
ENST00000541326.5:n.885C>T
ENST00000545896.1:c.157C>T ENSP00000440209.1:p.Leu53=
NM_031471.5:c.1469C>T NP_113659.3:p.Pro490Leu
NM_178443.2:c.1481C>T , LRG_180t1:c.1481C>T NP_848537.1:p.Pro494Leu
XM_011545294.1:c.1481C>T XP_011543596.1:p.Pro494Leu
XM_011545295.1:c.941C>T XP_011543597.1:p.Pro314Leu
XM_011545296.1:c.941C>T XP_011543598.1:p.Pro314Leu
XM_011545294.3:c.1481C>T XP_011543596.1:p.Pro494Leu
XM_011545295.2:c.941C>T XP_011543597.1:p.Pro314Leu
XM_017018398.2:c.1469C>T XP_016873887.1:p.Pro490Leu
XM_017018399.1:c.929C>T XP_016873888.1:p.Pro310Leu
NM_031471.6:c.1469C>T MANE Select NP_113659.3:p.Pro490Leu
NM_001382361.1:c.1469C>T NP_001369290.1:p.Pro490Leu
NM_001382362.1:c.1481C>T NP_001369291.1:p.Pro494Leu
NM_001382363.1:c.929C>T NP_001369292.1:p.Pro310Leu
NM_001382364.1:c.941C>T NP_001369293.1:p.Pro314Leu
NM_001382448.1:c.1469C>T NP_001369377.1:p.Pro490Leu
NM_178443.3:c.1481C>T NP_848537.1:p.Pro494Leu