Canonical Allele Identifier: CA381087093
Gene: FERMT3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64220271A>T , CM000673.2:g.64220271A>T GRCh38
NC_000011.9:g.63987743A>T , CM000673.1:g.63987743A>T GRCh37
NC_000011.8:g.63744319A>T NCBI36
NG_016360.1:g.18592A>T , LRG_180:g.18592A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000279227.10:c.1268A>T ENSP00000279227.5:p.Lys423Ile
ENST00000540554.2:n.2325A>T
ENST00000541252.2:c.716A>T ENSP00000438885.2:p.Lys239Ile
ENST00000541326.6:n.568A>T
ENST00000544997.6:c.1256A>T ENSP00000445778.2:p.Lys419Ile
ENST00000546255.2:n.1451A>T
ENST00000698845.1:c.*451A>T ENSP00000513981.1:n.*451A>T
ENST00000698846.1:n.1393A>T
ENST00000698847.1:c.*661A>T ENSP00000513982.1:n.*661A>T
ENST00000698848.1:n.445A>T
ENST00000698849.1:n.376A>T
ENST00000698850.1:n.915A>T
ENST00000698852.1:c.1256A>T ENSP00000513984.1:p.Lys419Ile
ENST00000698853.1:c.*485A>T ENSP00000513985.1:n.*485A>T
ENST00000698854.1:c.*586A>T ENSP00000513986.1:n.*586A>T
ENST00000698855.1:n.2908A>T
ENST00000698856.1:n.2493A>T
ENST00000698859.1:n.1420A>T
ENST00000698860.1:c.1268A>T ENSP00000513988.1:p.Lys423Ile
ENST00000698861.1:c.1256A>T ENSP00000513989.1:p.Lys419Ile
ENST00000698862.1:c.*552A>T ENSP00000513990.1:n.*552A>T
ENST00000698863.1:c.1256A>T ENSP00000513991.1:p.Lys419Ile
ENST00000698864.1:n.1362A>T
ENST00000698865.1:c.1277A>T ENSP00000513992.1:p.Lys426Ile
ENST00000698866.1:c.*661A>T ENSP00000513993.1:n.*661A>T
ENST00000698867.1:n.5231A>T
ENST00000698868.1:c.1121A>T ENSP00000513994.1:p.Lys374Ile
ENST00000698869.1:c.1256A>T ENSP00000513995.1:p.Lys419Ile
ENST00000698870.1:c.1256A>T ENSP00000513996.1:p.Lys419Ile
ENST00000698871.1:n.1779A>T
ENST00000698872.1:c.*45A>T ENSP00000513997.1:n.*45A>T
ENST00000698873.1:c.*451A>T ENSP00000513998.1:n.*451A>T
ENST00000698874.1:c.716A>T ENSP00000513999.1:p.Lys239Ile
ENST00000698875.1:n.1116A>T
ENST00000698876.1:n.1195A>T
ENST00000698877.1:n.824A>T
ENST00000698878.1:c.1256A>T ENSP00000514000.1:p.Lys419Ile
ENST00000698880.1:c.1096A>T
ENST00000345728.10:c.1256A>T MANE Select ENSP00000339950.5:p.Lys419Ile
ENST00000279227.9:c.1268A>T ENSP00000279227.5:p.Lys423Ile
ENST00000345728.9:c.1256A>T ENSP00000339950.5:p.Lys419Ile
ENST00000540957.1:n.409A>T
ENST00000541326.5:n.563A>T
NM_031471.5:c.1256A>T NP_113659.3:p.Lys419Ile
NM_178443.2:c.1268A>T , LRG_180t1:c.1268A>T NP_848537.1:p.Lys423Ile
XM_011545294.1:c.1268A>T XP_011543596.1:p.Lys423Ile
XM_011545295.1:c.728A>T XP_011543597.1:p.Lys243Ile
XM_011545296.1:c.728A>T XP_011543598.1:p.Lys243Ile
XM_011545294.3:c.1268A>T XP_011543596.1:p.Lys423Ile
XM_011545295.2:c.728A>T XP_011543597.1:p.Lys243Ile
XM_017018398.2:c.1256A>T XP_016873887.1:p.Lys419Ile
XM_017018399.1:c.716A>T XP_016873888.1:p.Lys239Ile
NM_031471.6:c.1256A>T MANE Select NP_113659.3:p.Lys419Ile
NM_001382361.1:c.1256A>T NP_001369290.1:p.Lys419Ile
NM_001382362.1:c.1268A>T NP_001369291.1:p.Lys423Ile
NM_001382363.1:c.716A>T NP_001369292.1:p.Lys239Ile
NM_001382364.1:c.728A>T NP_001369293.1:p.Lys243Ile
NM_001382448.1:c.1256A>T NP_001369377.1:p.Lys419Ile
NM_178443.3:c.1268A>T NP_848537.1:p.Lys423Ile