Canonical Allele Identifier: CA381087558
Gene: FERMT3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64220493A>C , CM000673.2:g.64220493A>C GRCh38
NC_000011.9:g.63987965A>C , CM000673.1:g.63987965A>C GRCh37
NC_000011.8:g.63744541A>C NCBI36
NG_016360.1:g.18814A>C , LRG_180:g.18814A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000279227.10:c.1381A>C ENSP00000279227.5:p.Met461Leu
ENST00000540554.2:n.2547A>C
ENST00000541252.2:c.829A>C ENSP00000438885.2:p.Met277Leu
ENST00000541326.6:n.790A>C
ENST00000544997.6:c.1369A>C ENSP00000445778.2:p.Met457Leu
ENST00000545896.2:c.58A>C ENSP00000440209.2:p.Met20Leu
ENST00000546255.2:n.1673A>C
ENST00000698845.1:c.*564A>C ENSP00000513981.1:n.*564A>C
ENST00000698846.1:n.1615A>C
ENST00000698847.1:c.*774A>C ENSP00000513982.1:n.*774A>C
ENST00000698849.1:n.489A>C
ENST00000698850.1:n.1137A>C
ENST00000698852.1:c.1369A>C ENSP00000513984.1:p.Met457Leu
ENST00000698853.1:c.*598A>C ENSP00000513985.1:n.*598A>C
ENST00000698854.1:c.*699A>C ENSP00000513986.1:n.*699A>C
ENST00000698855.1:n.3021A>C
ENST00000698856.1:n.2715A>C
ENST00000698859.1:n.1533A>C
ENST00000698860.1:c.1381A>C ENSP00000513988.1:p.Met461Leu
ENST00000698861.1:c.1369A>C ENSP00000513989.1:p.Met457Leu
ENST00000698862.1:c.*665A>C ENSP00000513990.1:n.*665A>C
ENST00000698863.1:c.1369A>C ENSP00000513991.1:p.Met457Leu
ENST00000698864.1:n.1584A>C
ENST00000698865.1:c.1390A>C ENSP00000513992.1:p.Met464Leu
ENST00000698866.1:c.*883A>C ENSP00000513993.1:n.*883A>C
ENST00000698867.1:n.5344A>C
ENST00000698868.1:c.1234A>C ENSP00000513994.1:p.Met412Leu
ENST00000698869.1:c.1311+167A>C ENSP00000513995.1:n.1311+167A>C
ENST00000698870.1:c.1369A>C ENSP00000513996.1:p.Met457Leu
ENST00000698871.1:n.1892A>C
ENST00000698872.1:c.*158A>C ENSP00000513997.1:n.*158A>C
ENST00000698873.1:c.*564A>C ENSP00000513998.1:n.*564A>C
ENST00000698874.1:c.829A>C ENSP00000513999.1:p.Met277Leu
ENST00000698875.1:n.1229A>C
ENST00000698876.1:n.1417A>C
ENST00000698877.1:n.937A>C
ENST00000698878.1:c.1363A>C ENSP00000514000.1:p.Met455Leu
ENST00000698880.1:c.1237A>C
ENST00000345728.10:c.1369A>C MANE Select ENSP00000339950.5:p.Met457Leu
ENST00000279227.9:c.1381A>C ENSP00000279227.5:p.Met461Leu
ENST00000345728.9:c.1369A>C ENSP00000339950.5:p.Met457Leu
ENST00000541326.5:n.785A>C
ENST00000545896.1:c.57A>C ENSP00000440209.1:p.Pro19=
NM_031471.5:c.1369A>C NP_113659.3:p.Met457Leu
NM_178443.2:c.1381A>C , LRG_180t1:c.1381A>C NP_848537.1:p.Met461Leu
XM_011545294.1:c.1381A>C XP_011543596.1:p.Met461Leu
XM_011545295.1:c.841A>C XP_011543597.1:p.Met281Leu
XM_011545296.1:c.841A>C XP_011543598.1:p.Met281Leu
XM_011545294.3:c.1381A>C XP_011543596.1:p.Met461Leu
XM_011545295.2:c.841A>C XP_011543597.1:p.Met281Leu
XM_017018398.2:c.1369A>C XP_016873887.1:p.Met457Leu
XM_017018399.1:c.829A>C XP_016873888.1:p.Met277Leu
NM_031471.6:c.1369A>C MANE Select NP_113659.3:p.Met457Leu
NM_001382361.1:c.1369A>C NP_001369290.1:p.Met457Leu
NM_001382362.1:c.1381A>C NP_001369291.1:p.Met461Leu
NM_001382363.1:c.829A>C NP_001369292.1:p.Met277Leu
NM_001382364.1:c.841A>C NP_001369293.1:p.Met281Leu
NM_001382448.1:c.1369A>C NP_001369377.1:p.Met457Leu
NM_178443.3:c.1381A>C NP_848537.1:p.Met461Leu