Canonical Allele Identifier: CA381089570
Gene: FERMT3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64223074T>C , CM000673.2:g.64223074T>C GRCh38
NC_000011.9:g.63990546T>C , CM000673.1:g.63990546T>C GRCh37
NC_000011.8:g.63747122T>C NCBI36
NG_016360.1:g.21395T>C , LRG_180:g.21395T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000279227.10:c.1709T>C ENSP00000279227.5:p.Ile570Thr
ENST00000540554.2:n.3221T>C
ENST00000541252.2:c.1157T>C ENSP00000438885.2:p.Ile386Thr
ENST00000544997.6:c.1697T>C ENSP00000445778.2:p.Ile566Thr
ENST00000545896.2:c.261T>C ENSP00000440209.2:p.Asp87=
ENST00000546255.2:n.2001T>C
ENST00000698845.1:c.*892T>C ENSP00000513981.1:n.*892T>C
ENST00000698846.1:n.1943T>C
ENST00000698847.1:c.*1102T>C ENSP00000513982.1:n.*1102T>C
ENST00000698850.1:n.3718T>C
ENST00000698852.1:c.1697T>C ENSP00000513984.1:p.Ile566Thr
ENST00000698853.1:c.*926T>C ENSP00000513985.1:n.*926T>C
ENST00000698854.1:c.*1027T>C ENSP00000513986.1:n.*1027T>C
ENST00000698855.1:n.3349T>C
ENST00000698856.1:n.3043T>C
ENST00000698859.1:n.2207T>C
ENST00000698860.1:c.1709T>C ENSP00000513988.1:p.Ile570Thr
ENST00000698861.1:c.1697T>C ENSP00000513989.1:p.Ile566Thr
ENST00000698862.1:c.*993T>C ENSP00000513990.1:n.*993T>C
ENST00000698863.1:c.1697T>C ENSP00000513991.1:p.Ile566Thr
ENST00000698864.1:n.2258T>C
ENST00000698865.1:c.1718T>C ENSP00000513992.1:p.Ile573Thr
ENST00000698866.1:c.*1485T>C ENSP00000513993.1:n.*1485T>C
ENST00000698867.1:n.5672T>C
ENST00000698868.1:c.1562T>C ENSP00000513994.1:p.Ile521Thr
ENST00000698869.1:c.1463T>C ENSP00000513995.1:p.Ile488Thr
ENST00000698870.1:c.1697T>C ENSP00000513996.1:p.Ile566Thr
ENST00000698871.1:n.2220T>C
ENST00000698872.1:c.*486T>C ENSP00000513997.1:n.*486T>C
ENST00000698873.1:c.*892T>C ENSP00000513998.1:n.*892T>C
ENST00000698874.1:c.1157T>C ENSP00000513999.1:p.Ile386Thr
ENST00000698875.1:n.1557T>C
ENST00000698876.1:n.1745T>C
ENST00000698877.1:n.1265T>C
ENST00000698878.1:c.1691T>C ENSP00000514000.1:p.Ile564Thr
ENST00000698880.1:c.1565T>C
ENST00000345728.10:c.1697T>C MANE Select ENSP00000339950.5:p.Ile566Thr
ENST00000279227.9:c.1709T>C ENSP00000279227.5:p.Ile570Thr
ENST00000345728.9:c.1697T>C ENSP00000339950.5:p.Ile566Thr
ENST00000540554.1:n.333T>C
ENST00000545896.1:c.260T>C ENSP00000440209.1:p.Ile87Thr
NM_031471.5:c.1697T>C NP_113659.3:p.Ile566Thr
NM_178443.2:c.1709T>C , LRG_180t1:c.1709T>C NP_848537.1:p.Ile570Thr
XM_011545294.1:c.1709T>C XP_011543596.1:p.Ile570Thr
XM_011545295.1:c.1169T>C XP_011543597.1:p.Ile390Thr
XM_011545296.1:c.1169T>C XP_011543598.1:p.Ile390Thr
XM_011545294.3:c.1709T>C XP_011543596.1:p.Ile570Thr
XM_011545295.2:c.1169T>C XP_011543597.1:p.Ile390Thr
XM_017018398.2:c.1697T>C XP_016873887.1:p.Ile566Thr
XM_017018399.1:c.1157T>C XP_016873888.1:p.Ile386Thr
NM_031471.6:c.1697T>C MANE Select NP_113659.3:p.Ile566Thr
NM_001382361.1:c.1697T>C NP_001369290.1:p.Ile566Thr
NM_001382362.1:c.1709T>C NP_001369291.1:p.Ile570Thr
NM_001382363.1:c.1157T>C NP_001369292.1:p.Ile386Thr
NM_001382364.1:c.1169T>C NP_001369293.1:p.Ile390Thr
NM_001382448.1:c.1697T>C NP_001369377.1:p.Ile566Thr
NM_178443.3:c.1709T>C NP_848537.1:p.Ile570Thr