Canonical Allele Identifier: CA381089456
Gene: FERMT3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64223059G>C , CM000673.2:g.64223059G>C GRCh38
NC_000011.9:g.63990531G>C , CM000673.1:g.63990531G>C GRCh37
NC_000011.8:g.63747107G>C NCBI36
NG_016360.1:g.21380G>C , LRG_180:g.21380G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000279227.10:c.1694G>C ENSP00000279227.5:p.Ser565Thr
ENST00000540554.2:n.3206G>C
ENST00000541252.2:c.1142G>C ENSP00000438885.2:p.Ser381Thr
ENST00000544997.6:c.1682G>C ENSP00000445778.2:p.Ser561Thr
ENST00000545896.2:c.246G>C ENSP00000440209.2:p.Gln82His
ENST00000546255.2:n.1986G>C
ENST00000698845.1:c.*877G>C ENSP00000513981.1:n.*877G>C
ENST00000698846.1:n.1928G>C
ENST00000698847.1:c.*1087G>C ENSP00000513982.1:n.*1087G>C
ENST00000698850.1:n.3703G>C
ENST00000698852.1:c.1682G>C ENSP00000513984.1:p.Ser561Thr
ENST00000698853.1:c.*911G>C ENSP00000513985.1:n.*911G>C
ENST00000698854.1:c.*1012G>C ENSP00000513986.1:n.*1012G>C
ENST00000698855.1:n.3334G>C
ENST00000698856.1:n.3028G>C
ENST00000698859.1:n.2192G>C
ENST00000698860.1:c.1694G>C ENSP00000513988.1:p.Ser565Thr
ENST00000698861.1:c.1682G>C ENSP00000513989.1:p.Ser561Thr
ENST00000698862.1:c.*978G>C ENSP00000513990.1:n.*978G>C
ENST00000698863.1:c.1682G>C ENSP00000513991.1:p.Ser561Thr
ENST00000698864.1:n.2243G>C
ENST00000698865.1:c.1703G>C ENSP00000513992.1:p.Ser568Thr
ENST00000698866.1:c.*1470G>C ENSP00000513993.1:n.*1470G>C
ENST00000698867.1:n.5657G>C
ENST00000698868.1:c.1547G>C ENSP00000513994.1:p.Ser516Thr
ENST00000698869.1:c.1448G>C ENSP00000513995.1:p.Ser483Thr
ENST00000698870.1:c.1682G>C ENSP00000513996.1:p.Ser561Thr
ENST00000698871.1:n.2205G>C
ENST00000698872.1:c.*471G>C ENSP00000513997.1:n.*471G>C
ENST00000698873.1:c.*877G>C ENSP00000513998.1:n.*877G>C
ENST00000698874.1:c.1142G>C ENSP00000513999.1:p.Ser381Thr
ENST00000698875.1:n.1542G>C
ENST00000698876.1:n.1730G>C
ENST00000698877.1:n.1250G>C
ENST00000698878.1:c.1676G>C ENSP00000514000.1:p.Ser559Thr
ENST00000698880.1:c.1550G>C
ENST00000345728.10:c.1682G>C MANE Select ENSP00000339950.5:p.Ser561Thr
ENST00000279227.9:c.1694G>C ENSP00000279227.5:p.Ser565Thr
ENST00000345728.9:c.1682G>C ENSP00000339950.5:p.Ser561Thr
ENST00000540554.1:n.318G>C
ENST00000545896.1:c.245G>C ENSP00000440209.1:p.Ser82Thr
NM_031471.5:c.1682G>C NP_113659.3:p.Ser561Thr
NM_178443.2:c.1694G>C , LRG_180t1:c.1694G>C NP_848537.1:p.Ser565Thr
XM_011545294.1:c.1694G>C XP_011543596.1:p.Ser565Thr
XM_011545295.1:c.1154G>C XP_011543597.1:p.Ser385Thr
XM_011545296.1:c.1154G>C XP_011543598.1:p.Ser385Thr
XM_011545294.3:c.1694G>C XP_011543596.1:p.Ser565Thr
XM_011545295.2:c.1154G>C XP_011543597.1:p.Ser385Thr
XM_017018398.2:c.1682G>C XP_016873887.1:p.Ser561Thr
XM_017018399.1:c.1142G>C XP_016873888.1:p.Ser381Thr
NM_031471.6:c.1682G>C MANE Select NP_113659.3:p.Ser561Thr
NM_001382361.1:c.1682G>C NP_001369290.1:p.Ser561Thr
NM_001382362.1:c.1694G>C NP_001369291.1:p.Ser565Thr
NM_001382363.1:c.1142G>C NP_001369292.1:p.Ser381Thr
NM_001382364.1:c.1154G>C NP_001369293.1:p.Ser385Thr
NM_001382448.1:c.1682G>C NP_001369377.1:p.Ser561Thr
NM_178443.3:c.1694G>C NP_848537.1:p.Ser565Thr