Canonical Allele Identifier: CA381089540
Gene: FERMT3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64223070G>T , CM000673.2:g.64223070G>T GRCh38
NC_000011.9:g.63990542G>T , CM000673.1:g.63990542G>T GRCh37
NC_000011.8:g.63747118G>T NCBI36
NG_016360.1:g.21391G>T , LRG_180:g.21391G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000279227.10:c.1705G>T ENSP00000279227.5:p.Glu569Ter
ENST00000540554.2:n.3217G>T
ENST00000541252.2:c.1153G>T ENSP00000438885.2:p.Glu385Ter
ENST00000544997.6:c.1693G>T ENSP00000445778.2:p.Glu565Ter
ENST00000545896.2:c.257G>T ENSP00000440209.2:p.Arg86Leu
ENST00000546255.2:n.1997G>T
ENST00000698845.1:c.*888G>T ENSP00000513981.1:n.*888G>T
ENST00000698846.1:n.1939G>T
ENST00000698847.1:c.*1098G>T ENSP00000513982.1:n.*1098G>T
ENST00000698850.1:n.3714G>T
ENST00000698852.1:c.1693G>T ENSP00000513984.1:p.Glu565Ter
ENST00000698853.1:c.*922G>T ENSP00000513985.1:n.*922G>T
ENST00000698854.1:c.*1023G>T ENSP00000513986.1:n.*1023G>T
ENST00000698855.1:n.3345G>T
ENST00000698856.1:n.3039G>T
ENST00000698859.1:n.2203G>T
ENST00000698860.1:c.1705G>T ENSP00000513988.1:p.Glu569Ter
ENST00000698861.1:c.1693G>T ENSP00000513989.1:p.Glu565Ter
ENST00000698862.1:c.*989G>T ENSP00000513990.1:n.*989G>T
ENST00000698863.1:c.1693G>T ENSP00000513991.1:p.Glu565Ter
ENST00000698864.1:n.2254G>T
ENST00000698865.1:c.1714G>T ENSP00000513992.1:p.Glu572Ter
ENST00000698866.1:c.*1481G>T ENSP00000513993.1:n.*1481G>T
ENST00000698867.1:n.5668G>T
ENST00000698868.1:c.1558G>T ENSP00000513994.1:p.Glu520Ter
ENST00000698869.1:c.1459G>T ENSP00000513995.1:p.Glu487Ter
ENST00000698870.1:c.1693G>T ENSP00000513996.1:p.Glu565Ter
ENST00000698871.1:n.2216G>T
ENST00000698872.1:c.*482G>T ENSP00000513997.1:n.*482G>T
ENST00000698873.1:c.*888G>T ENSP00000513998.1:n.*888G>T
ENST00000698874.1:c.1153G>T ENSP00000513999.1:p.Glu385Ter
ENST00000698875.1:n.1553G>T
ENST00000698876.1:n.1741G>T
ENST00000698877.1:n.1261G>T
ENST00000698878.1:c.1687G>T ENSP00000514000.1:p.Glu563Ter
ENST00000698880.1:c.1561G>T
ENST00000345728.10:c.1693G>T MANE Select ENSP00000339950.5:p.Glu565Ter
ENST00000279227.9:c.1705G>T ENSP00000279227.5:p.Glu569Ter
ENST00000345728.9:c.1693G>T ENSP00000339950.5:p.Glu565Ter
ENST00000540554.1:n.329G>T
ENST00000545896.1:c.256G>T ENSP00000440209.1:p.Glu86Ter
NM_031471.5:c.1693G>T NP_113659.3:p.Glu565Ter
NM_178443.2:c.1705G>T , LRG_180t1:c.1705G>T NP_848537.1:p.Glu569Ter
XM_011545294.1:c.1705G>T XP_011543596.1:p.Glu569Ter
XM_011545295.1:c.1165G>T XP_011543597.1:p.Glu389Ter
XM_011545296.1:c.1165G>T XP_011543598.1:p.Glu389Ter
XM_011545294.3:c.1705G>T XP_011543596.1:p.Glu569Ter
XM_011545295.2:c.1165G>T XP_011543597.1:p.Glu389Ter
XM_017018398.2:c.1693G>T XP_016873887.1:p.Glu565Ter
XM_017018399.1:c.1153G>T XP_016873888.1:p.Glu385Ter
NM_031471.6:c.1693G>T MANE Select NP_113659.3:p.Glu565Ter
NM_001382361.1:c.1693G>T NP_001369290.1:p.Glu565Ter
NM_001382362.1:c.1705G>T NP_001369291.1:p.Glu569Ter
NM_001382363.1:c.1153G>T NP_001369292.1:p.Glu385Ter
NM_001382364.1:c.1165G>T NP_001369293.1:p.Glu389Ter
NM_001382448.1:c.1693G>T NP_001369377.1:p.Glu565Ter
NM_178443.3:c.1705G>T NP_848537.1:p.Glu569Ter