Canonical Allele Identifier: CA381087840
Gene: FERMT3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64220556A>C , CM000673.2:g.64220556A>C GRCh38
NC_000011.9:g.63988028A>C , CM000673.1:g.63988028A>C GRCh37
NC_000011.8:g.63744604A>C NCBI36
NG_016360.1:g.18877A>C , LRG_180:g.18877A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000279227.10:c.1444A>C ENSP00000279227.5:p.Thr482Pro
ENST00000540554.2:n.2610A>C
ENST00000541252.2:c.892A>C ENSP00000438885.2:p.Thr298Pro
ENST00000541326.6:n.853A>C
ENST00000544997.6:c.1432A>C ENSP00000445778.2:p.Thr478Pro
ENST00000545896.2:c.121A>C ENSP00000440209.2:p.Thr41Pro
ENST00000546255.2:n.1736A>C
ENST00000698845.1:c.*627A>C ENSP00000513981.1:n.*627A>C
ENST00000698846.1:n.1678A>C
ENST00000698847.1:c.*837A>C ENSP00000513982.1:n.*837A>C
ENST00000698849.1:n.552A>C
ENST00000698850.1:n.1200A>C
ENST00000698852.1:c.1432A>C ENSP00000513984.1:p.Thr478Pro
ENST00000698853.1:c.*661A>C ENSP00000513985.1:n.*661A>C
ENST00000698854.1:c.*762A>C ENSP00000513986.1:n.*762A>C
ENST00000698855.1:n.3084A>C
ENST00000698856.1:n.2778A>C
ENST00000698859.1:n.1596A>C
ENST00000698860.1:c.1444A>C ENSP00000513988.1:p.Thr482Pro
ENST00000698861.1:c.1432A>C ENSP00000513989.1:p.Thr478Pro
ENST00000698862.1:c.*728A>C ENSP00000513990.1:n.*728A>C
ENST00000698863.1:c.1432A>C ENSP00000513991.1:p.Thr478Pro
ENST00000698864.1:n.1647A>C
ENST00000698865.1:c.1453A>C ENSP00000513992.1:p.Thr485Pro
ENST00000698866.1:c.*946A>C ENSP00000513993.1:n.*946A>C
ENST00000698867.1:n.5407A>C
ENST00000698868.1:c.1297A>C ENSP00000513994.1:p.Thr433Pro
ENST00000698869.1:c.1311+230A>C ENSP00000513995.1:n.1311+230A>C
ENST00000698870.1:c.1432A>C ENSP00000513996.1:p.Thr478Pro
ENST00000698871.1:n.1955A>C
ENST00000698872.1:c.*221A>C ENSP00000513997.1:n.*221A>C
ENST00000698873.1:c.*627A>C ENSP00000513998.1:n.*627A>C
ENST00000698874.1:c.892A>C ENSP00000513999.1:p.Thr298Pro
ENST00000698875.1:n.1292A>C
ENST00000698876.1:n.1480A>C
ENST00000698877.1:n.1000A>C
ENST00000698878.1:c.1426A>C ENSP00000514000.1:p.Thr476Pro
ENST00000698880.1:c.1300A>C
ENST00000345728.10:c.1432A>C MANE Select ENSP00000339950.5:p.Thr478Pro
ENST00000279227.9:c.1444A>C ENSP00000279227.5:p.Thr482Pro
ENST00000345728.9:c.1432A>C ENSP00000339950.5:p.Thr478Pro
ENST00000541326.5:n.848A>C
ENST00000545896.1:c.120A>C ENSP00000440209.1:p.Ala40=
NM_031471.5:c.1432A>C NP_113659.3:p.Thr478Pro
NM_178443.2:c.1444A>C , LRG_180t1:c.1444A>C NP_848537.1:p.Thr482Pro
XM_011545294.1:c.1444A>C XP_011543596.1:p.Thr482Pro
XM_011545295.1:c.904A>C XP_011543597.1:p.Thr302Pro
XM_011545296.1:c.904A>C XP_011543598.1:p.Thr302Pro
XM_011545294.3:c.1444A>C XP_011543596.1:p.Thr482Pro
XM_011545295.2:c.904A>C XP_011543597.1:p.Thr302Pro
XM_017018398.2:c.1432A>C XP_016873887.1:p.Thr478Pro
XM_017018399.1:c.892A>C XP_016873888.1:p.Thr298Pro
NM_031471.6:c.1432A>C MANE Select NP_113659.3:p.Thr478Pro
NM_001382361.1:c.1432A>C NP_001369290.1:p.Thr478Pro
NM_001382362.1:c.1444A>C NP_001369291.1:p.Thr482Pro
NM_001382363.1:c.892A>C NP_001369292.1:p.Thr298Pro
NM_001382364.1:c.904A>C NP_001369293.1:p.Thr302Pro
NM_001382448.1:c.1432A>C NP_001369377.1:p.Thr478Pro
NM_178443.3:c.1444A>C NP_848537.1:p.Thr482Pro