Canonical Allele Identifier: CA381087491
Gene: FERMT3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64220474G>C , CM000673.2:g.64220474G>C GRCh38
NC_000011.9:g.63987946G>C , CM000673.1:g.63987946G>C GRCh37
NC_000011.8:g.63744522G>C NCBI36
NG_016360.1:g.18795G>C , LRG_180:g.18795G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000279227.10:c.1362G>C ENSP00000279227.5:p.Leu454=
ENST00000540554.2:n.2528G>C
ENST00000541252.2:c.810G>C ENSP00000438885.2:p.Leu270=
ENST00000541326.6:n.771G>C
ENST00000544997.6:c.1350G>C ENSP00000445778.2:p.Leu450=
ENST00000545896.2:c.39G>C ENSP00000440209.2:p.Leu13=
ENST00000546255.2:n.1654G>C
ENST00000698845.1:c.*545G>C ENSP00000513981.1:n.*545G>C
ENST00000698846.1:n.1596G>C
ENST00000698847.1:c.*755G>C ENSP00000513982.1:n.*755G>C
ENST00000698848.1:n.648G>C
ENST00000698849.1:n.470G>C
ENST00000698850.1:n.1118G>C
ENST00000698852.1:c.1350G>C ENSP00000513984.1:p.Leu450=
ENST00000698853.1:c.*579G>C ENSP00000513985.1:n.*579G>C
ENST00000698854.1:c.*680G>C ENSP00000513986.1:n.*680G>C
ENST00000698855.1:n.3002G>C
ENST00000698856.1:n.2696G>C
ENST00000698859.1:n.1514G>C
ENST00000698860.1:c.1362G>C ENSP00000513988.1:p.Leu454=
ENST00000698861.1:c.1350G>C ENSP00000513989.1:p.Leu450=
ENST00000698862.1:c.*646G>C ENSP00000513990.1:n.*646G>C
ENST00000698863.1:c.1350G>C ENSP00000513991.1:p.Leu450=
ENST00000698864.1:n.1565G>C
ENST00000698865.1:c.1371G>C ENSP00000513992.1:p.Leu457=
ENST00000698866.1:c.*864G>C ENSP00000513993.1:n.*864G>C
ENST00000698867.1:n.5325G>C
ENST00000698868.1:c.1215G>C ENSP00000513994.1:p.Leu405=
ENST00000698869.1:c.1311+148G>C ENSP00000513995.1:n.1311+148G>C
ENST00000698870.1:c.1350G>C ENSP00000513996.1:p.Leu450=
ENST00000698871.1:n.1873G>C
ENST00000698872.1:c.*139G>C ENSP00000513997.1:n.*139G>C
ENST00000698873.1:c.*545G>C ENSP00000513998.1:n.*545G>C
ENST00000698874.1:c.810G>C ENSP00000513999.1:p.Leu270=
ENST00000698875.1:n.1210G>C
ENST00000698876.1:n.1398G>C
ENST00000698877.1:n.918G>C
ENST00000698878.1:c.1344G>C ENSP00000514000.1:p.Leu448=
ENST00000698880.1:c.1218G>C
ENST00000345728.10:c.1350G>C MANE Select ENSP00000339950.5:p.Leu450=
ENST00000279227.9:c.1362G>C ENSP00000279227.5:p.Leu454=
ENST00000345728.9:c.1350G>C ENSP00000339950.5:p.Leu450=
ENST00000541326.5:n.766G>C
ENST00000545896.1:c.38G>C ENSP00000440209.1:p.Trp13Ser
NM_031471.5:c.1350G>C NP_113659.3:p.Leu450=
NM_178443.2:c.1362G>C , LRG_180t1:c.1362G>C NP_848537.1:p.Leu454=
XM_011545294.1:c.1362G>C XP_011543596.1:p.Leu454=
XM_011545295.1:c.822G>C XP_011543597.1:p.Leu274=
XM_011545296.1:c.822G>C XP_011543598.1:p.Leu274=
XM_011545294.3:c.1362G>C XP_011543596.1:p.Leu454=
XM_011545295.2:c.822G>C XP_011543597.1:p.Leu274=
XM_017018398.2:c.1350G>C XP_016873887.1:p.Leu450=
XM_017018399.1:c.810G>C XP_016873888.1:p.Leu270=
NM_031471.6:c.1350G>C MANE Select NP_113659.3:p.Leu450=
NM_001382361.1:c.1350G>C NP_001369290.1:p.Leu450=
NM_001382362.1:c.1362G>C NP_001369291.1:p.Leu454=
NM_001382363.1:c.810G>C NP_001369292.1:p.Leu270=
NM_001382364.1:c.822G>C NP_001369293.1:p.Leu274=
NM_001382448.1:c.1350G>C NP_001369377.1:p.Leu450=
NM_178443.3:c.1362G>C NP_848537.1:p.Leu454=