Canonical Allele Identifier: CA381087568
Gene: FERMT3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64220496G>C , CM000673.2:g.64220496G>C GRCh38
NC_000011.9:g.63987968G>C , CM000673.1:g.63987968G>C GRCh37
NC_000011.8:g.63744544G>C NCBI36
NG_016360.1:g.18817G>C , LRG_180:g.18817G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000279227.10:c.1384G>C ENSP00000279227.5:p.Ala462Pro
ENST00000540554.2:n.2550G>C
ENST00000541252.2:c.832G>C ENSP00000438885.2:p.Ala278Pro
ENST00000541326.6:n.793G>C
ENST00000544997.6:c.1372G>C ENSP00000445778.2:p.Ala458Pro
ENST00000545896.2:c.61G>C ENSP00000440209.2:p.Ala21Pro
ENST00000546255.2:n.1676G>C
ENST00000698845.1:c.*567G>C ENSP00000513981.1:n.*567G>C
ENST00000698846.1:n.1618G>C
ENST00000698847.1:c.*777G>C ENSP00000513982.1:n.*777G>C
ENST00000698849.1:n.492G>C
ENST00000698850.1:n.1140G>C
ENST00000698852.1:c.1372G>C ENSP00000513984.1:p.Ala458Pro
ENST00000698853.1:c.*601G>C ENSP00000513985.1:n.*601G>C
ENST00000698854.1:c.*702G>C ENSP00000513986.1:n.*702G>C
ENST00000698855.1:n.3024G>C
ENST00000698856.1:n.2718G>C
ENST00000698859.1:n.1536G>C
ENST00000698860.1:c.1384G>C ENSP00000513988.1:p.Ala462Pro
ENST00000698861.1:c.1372G>C ENSP00000513989.1:p.Ala458Pro
ENST00000698862.1:c.*668G>C ENSP00000513990.1:n.*668G>C
ENST00000698863.1:c.1372G>C ENSP00000513991.1:p.Ala458Pro
ENST00000698864.1:n.1587G>C
ENST00000698865.1:c.1393G>C ENSP00000513992.1:p.Ala465Pro
ENST00000698866.1:c.*886G>C ENSP00000513993.1:n.*886G>C
ENST00000698867.1:n.5347G>C
ENST00000698868.1:c.1237G>C ENSP00000513994.1:p.Ala413Pro
ENST00000698869.1:c.1311+170G>C ENSP00000513995.1:n.1311+170G>C
ENST00000698870.1:c.1372G>C ENSP00000513996.1:p.Ala458Pro
ENST00000698871.1:n.1895G>C
ENST00000698872.1:c.*161G>C ENSP00000513997.1:n.*161G>C
ENST00000698873.1:c.*567G>C ENSP00000513998.1:n.*567G>C
ENST00000698874.1:c.832G>C ENSP00000513999.1:p.Ala278Pro
ENST00000698875.1:n.1232G>C
ENST00000698876.1:n.1420G>C
ENST00000698877.1:n.940G>C
ENST00000698878.1:c.1366G>C ENSP00000514000.1:p.Ala456Pro
ENST00000698880.1:c.1240G>C
ENST00000345728.10:c.1372G>C MANE Select ENSP00000339950.5:p.Ala458Pro
ENST00000279227.9:c.1384G>C ENSP00000279227.5:p.Ala462Pro
ENST00000345728.9:c.1372G>C ENSP00000339950.5:p.Ala458Pro
ENST00000541326.5:n.788G>C
ENST00000545896.1:c.60G>C ENSP00000440209.1:p.Trp20Cys
NM_031471.5:c.1372G>C NP_113659.3:p.Ala458Pro
NM_178443.2:c.1384G>C , LRG_180t1:c.1384G>C NP_848537.1:p.Ala462Pro
XM_011545294.1:c.1384G>C XP_011543596.1:p.Ala462Pro
XM_011545295.1:c.844G>C XP_011543597.1:p.Ala282Pro
XM_011545296.1:c.844G>C XP_011543598.1:p.Ala282Pro
XM_011545294.3:c.1384G>C XP_011543596.1:p.Ala462Pro
XM_011545295.2:c.844G>C XP_011543597.1:p.Ala282Pro
XM_017018398.2:c.1372G>C XP_016873887.1:p.Ala458Pro
XM_017018399.1:c.832G>C XP_016873888.1:p.Ala278Pro
NM_031471.6:c.1372G>C MANE Select NP_113659.3:p.Ala458Pro
NM_001382361.1:c.1372G>C NP_001369290.1:p.Ala458Pro
NM_001382362.1:c.1384G>C NP_001369291.1:p.Ala462Pro
NM_001382363.1:c.832G>C NP_001369292.1:p.Ala278Pro
NM_001382364.1:c.844G>C NP_001369293.1:p.Ala282Pro
NM_001382448.1:c.1372G>C NP_001369377.1:p.Ala458Pro
NM_178443.3:c.1384G>C NP_848537.1:p.Ala462Pro