Canonical Allele Identifier: CA381087881
Gene: FERMT3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64220566G>C , CM000673.2:g.64220566G>C GRCh38
NC_000011.9:g.63988038G>C , CM000673.1:g.63988038G>C GRCh37
NC_000011.8:g.63744614G>C NCBI36
NG_016360.1:g.18887G>C , LRG_180:g.18887G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000279227.10:c.1454G>C ENSP00000279227.5:p.Gly485Ala
ENST00000540554.2:n.2620G>C
ENST00000541252.2:c.902G>C ENSP00000438885.2:p.Gly301Ala
ENST00000541326.6:n.863G>C
ENST00000544997.6:c.1442G>C ENSP00000445778.2:p.Gly481Ala
ENST00000545896.2:c.131G>C ENSP00000440209.2:p.Gly44Ala
ENST00000546255.2:n.1746G>C
ENST00000698845.1:c.*637G>C ENSP00000513981.1:n.*637G>C
ENST00000698846.1:n.1688G>C
ENST00000698847.1:c.*847G>C ENSP00000513982.1:n.*847G>C
ENST00000698849.1:n.562G>C
ENST00000698850.1:n.1210G>C
ENST00000698852.1:c.1442G>C ENSP00000513984.1:p.Gly481Ala
ENST00000698853.1:c.*671G>C ENSP00000513985.1:n.*671G>C
ENST00000698854.1:c.*772G>C ENSP00000513986.1:n.*772G>C
ENST00000698855.1:n.3094G>C
ENST00000698856.1:n.2788G>C
ENST00000698859.1:n.1606G>C
ENST00000698860.1:c.1454G>C ENSP00000513988.1:p.Gly485Ala
ENST00000698861.1:c.1442G>C ENSP00000513989.1:p.Gly481Ala
ENST00000698862.1:c.*738G>C ENSP00000513990.1:n.*738G>C
ENST00000698863.1:c.1442G>C ENSP00000513991.1:p.Gly481Ala
ENST00000698864.1:n.1657G>C
ENST00000698865.1:c.1463G>C ENSP00000513992.1:p.Gly488Ala
ENST00000698866.1:c.*956G>C ENSP00000513993.1:n.*956G>C
ENST00000698867.1:n.5417G>C
ENST00000698868.1:c.1307G>C ENSP00000513994.1:p.Gly436Ala
ENST00000698869.1:c.1311+240G>C ENSP00000513995.1:n.1311+240G>C
ENST00000698870.1:c.1442G>C ENSP00000513996.1:p.Gly481Ala
ENST00000698871.1:n.1965G>C
ENST00000698872.1:c.*231G>C ENSP00000513997.1:n.*231G>C
ENST00000698873.1:c.*637G>C ENSP00000513998.1:n.*637G>C
ENST00000698874.1:c.902G>C ENSP00000513999.1:p.Gly301Ala
ENST00000698875.1:n.1302G>C
ENST00000698876.1:n.1490G>C
ENST00000698877.1:n.1010G>C
ENST00000698878.1:c.1436G>C ENSP00000514000.1:p.Gly479Ala
ENST00000698880.1:c.1310G>C
ENST00000345728.10:c.1442G>C MANE Select ENSP00000339950.5:p.Gly481Ala
ENST00000279227.9:c.1454G>C ENSP00000279227.5:p.Gly485Ala
ENST00000345728.9:c.1442G>C ENSP00000339950.5:p.Gly481Ala
ENST00000541326.5:n.858G>C
ENST00000545896.1:c.130G>C ENSP00000440209.1:p.Gly44Arg
NM_031471.5:c.1442G>C NP_113659.3:p.Gly481Ala
NM_178443.2:c.1454G>C , LRG_180t1:c.1454G>C NP_848537.1:p.Gly485Ala
XM_011545294.1:c.1454G>C XP_011543596.1:p.Gly485Ala
XM_011545295.1:c.914G>C XP_011543597.1:p.Gly305Ala
XM_011545296.1:c.914G>C XP_011543598.1:p.Gly305Ala
XM_011545294.3:c.1454G>C XP_011543596.1:p.Gly485Ala
XM_011545295.2:c.914G>C XP_011543597.1:p.Gly305Ala
XM_017018398.2:c.1442G>C XP_016873887.1:p.Gly481Ala
XM_017018399.1:c.902G>C XP_016873888.1:p.Gly301Ala
NM_031471.6:c.1442G>C MANE Select NP_113659.3:p.Gly481Ala
NM_001382361.1:c.1442G>C NP_001369290.1:p.Gly481Ala
NM_001382362.1:c.1454G>C NP_001369291.1:p.Gly485Ala
NM_001382363.1:c.902G>C NP_001369292.1:p.Gly301Ala
NM_001382364.1:c.914G>C NP_001369293.1:p.Gly305Ala
NM_001382448.1:c.1442G>C NP_001369377.1:p.Gly481Ala
NM_178443.3:c.1454G>C NP_848537.1:p.Gly485Ala