Canonical Allele Identifier: CA381087497
Gene: FERMT3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64220475G>T , CM000673.2:g.64220475G>T GRCh38
NC_000011.9:g.63987947G>T , CM000673.1:g.63987947G>T GRCh37
NC_000011.8:g.63744523G>T NCBI36
NG_016360.1:g.18796G>T , LRG_180:g.18796G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000279227.10:c.1363G>T ENSP00000279227.5:p.Ala455Ser
ENST00000540554.2:n.2529G>T
ENST00000541252.2:c.811G>T ENSP00000438885.2:p.Ala271Ser
ENST00000541326.6:n.772G>T
ENST00000544997.6:c.1351G>T ENSP00000445778.2:p.Ala451Ser
ENST00000545896.2:c.40G>T ENSP00000440209.2:p.Ala14Ser
ENST00000546255.2:n.1655G>T
ENST00000698845.1:c.*546G>T ENSP00000513981.1:n.*546G>T
ENST00000698846.1:n.1597G>T
ENST00000698847.1:c.*756G>T ENSP00000513982.1:n.*756G>T
ENST00000698848.1:n.649G>T
ENST00000698849.1:n.471G>T
ENST00000698850.1:n.1119G>T
ENST00000698852.1:c.1351G>T ENSP00000513984.1:p.Ala451Ser
ENST00000698853.1:c.*580G>T ENSP00000513985.1:n.*580G>T
ENST00000698854.1:c.*681G>T ENSP00000513986.1:n.*681G>T
ENST00000698855.1:n.3003G>T
ENST00000698856.1:n.2697G>T
ENST00000698859.1:n.1515G>T
ENST00000698860.1:c.1363G>T ENSP00000513988.1:p.Ala455Ser
ENST00000698861.1:c.1351G>T ENSP00000513989.1:p.Ala451Ser
ENST00000698862.1:c.*647G>T ENSP00000513990.1:n.*647G>T
ENST00000698863.1:c.1351G>T ENSP00000513991.1:p.Ala451Ser
ENST00000698864.1:n.1566G>T
ENST00000698865.1:c.1372G>T ENSP00000513992.1:p.Ala458Ser
ENST00000698866.1:c.*865G>T ENSP00000513993.1:n.*865G>T
ENST00000698867.1:n.5326G>T
ENST00000698868.1:c.1216G>T ENSP00000513994.1:p.Ala406Ser
ENST00000698869.1:c.1311+149G>T ENSP00000513995.1:n.1311+149G>T
ENST00000698870.1:c.1351G>T ENSP00000513996.1:p.Ala451Ser
ENST00000698871.1:n.1874G>T
ENST00000698872.1:c.*140G>T ENSP00000513997.1:n.*140G>T
ENST00000698873.1:c.*546G>T ENSP00000513998.1:n.*546G>T
ENST00000698874.1:c.811G>T ENSP00000513999.1:p.Ala271Ser
ENST00000698875.1:n.1211G>T
ENST00000698876.1:n.1399G>T
ENST00000698877.1:n.919G>T
ENST00000698878.1:c.1345G>T ENSP00000514000.1:p.Ala449Ser
ENST00000698880.1:c.1219G>T
ENST00000345728.10:c.1351G>T MANE Select ENSP00000339950.5:p.Ala451Ser
ENST00000279227.9:c.1363G>T ENSP00000279227.5:p.Ala455Ser
ENST00000345728.9:c.1351G>T ENSP00000339950.5:p.Ala451Ser
ENST00000541326.5:n.767G>T
ENST00000545896.1:c.39G>T ENSP00000440209.1:p.Trp13Cys
NM_031471.5:c.1351G>T NP_113659.3:p.Ala451Ser
NM_178443.2:c.1363G>T , LRG_180t1:c.1363G>T NP_848537.1:p.Ala455Ser
XM_011545294.1:c.1363G>T XP_011543596.1:p.Ala455Ser
XM_011545295.1:c.823G>T XP_011543597.1:p.Ala275Ser
XM_011545296.1:c.823G>T XP_011543598.1:p.Ala275Ser
XM_011545294.3:c.1363G>T XP_011543596.1:p.Ala455Ser
XM_011545295.2:c.823G>T XP_011543597.1:p.Ala275Ser
XM_017018398.2:c.1351G>T XP_016873887.1:p.Ala451Ser
XM_017018399.1:c.811G>T XP_016873888.1:p.Ala271Ser
NM_031471.6:c.1351G>T MANE Select NP_113659.3:p.Ala451Ser
NM_001382361.1:c.1351G>T NP_001369290.1:p.Ala451Ser
NM_001382362.1:c.1363G>T NP_001369291.1:p.Ala455Ser
NM_001382363.1:c.811G>T NP_001369292.1:p.Ala271Ser
NM_001382364.1:c.823G>T NP_001369293.1:p.Ala275Ser
NM_001382448.1:c.1351G>T NP_001369377.1:p.Ala451Ser
NM_178443.3:c.1363G>T NP_848537.1:p.Ala455Ser