Canonical Allele Identifier: CA381089625
Gene: FERMT3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64223085G>C , CM000673.2:g.64223085G>C GRCh38
NC_000011.9:g.63990557G>C , CM000673.1:g.63990557G>C GRCh37
NC_000011.8:g.63747133G>C NCBI36
NG_016360.1:g.21406G>C , LRG_180:g.21406G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000279227.10:c.1720G>C ENSP00000279227.5:p.Ala574Pro
ENST00000540554.2:n.3232G>C
ENST00000541252.2:c.1168G>C ENSP00000438885.2:p.Ala390Pro
ENST00000544997.6:c.1708G>C ENSP00000445778.2:p.Ala570Pro
ENST00000545896.2:c.272G>C ENSP00000440209.2:p.Arg91Pro
ENST00000546255.2:n.2012G>C
ENST00000698845.1:c.*903G>C ENSP00000513981.1:n.*903G>C
ENST00000698846.1:n.1954G>C
ENST00000698847.1:c.*1113G>C ENSP00000513982.1:n.*1113G>C
ENST00000698850.1:n.3729G>C
ENST00000698852.1:c.1708G>C ENSP00000513984.1:p.Ala570Pro
ENST00000698853.1:c.*937G>C ENSP00000513985.1:n.*937G>C
ENST00000698854.1:c.*1038G>C ENSP00000513986.1:n.*1038G>C
ENST00000698855.1:n.3360G>C
ENST00000698856.1:n.3054G>C
ENST00000698859.1:n.2218G>C
ENST00000698860.1:c.1720G>C ENSP00000513988.1:p.Ala574Pro
ENST00000698861.1:c.1708G>C ENSP00000513989.1:p.Ala570Pro
ENST00000698862.1:c.*1004G>C ENSP00000513990.1:n.*1004G>C
ENST00000698863.1:c.1708G>C ENSP00000513991.1:p.Ala570Pro
ENST00000698864.1:n.2269G>C
ENST00000698865.1:c.1729G>C ENSP00000513992.1:p.Ala577Pro
ENST00000698866.1:c.*1496G>C ENSP00000513993.1:n.*1496G>C
ENST00000698867.1:n.5683G>C
ENST00000698868.1:c.1573G>C ENSP00000513994.1:p.Ala525Pro
ENST00000698869.1:c.1474G>C ENSP00000513995.1:p.Ala492Pro
ENST00000698870.1:c.1708G>C ENSP00000513996.1:p.Ala570Pro
ENST00000698871.1:n.2231G>C
ENST00000698872.1:c.*497G>C ENSP00000513997.1:n.*497G>C
ENST00000698873.1:c.*903G>C ENSP00000513998.1:n.*903G>C
ENST00000698874.1:c.1168G>C ENSP00000513999.1:p.Ala390Pro
ENST00000698875.1:n.1568G>C
ENST00000698876.1:n.1756G>C
ENST00000698877.1:n.1276G>C
ENST00000698878.1:c.1702G>C ENSP00000514000.1:p.Ala568Pro
ENST00000698880.1:c.1576G>C
ENST00000345728.10:c.1708G>C MANE Select ENSP00000339950.5:p.Ala570Pro
ENST00000279227.9:c.1720G>C ENSP00000279227.5:p.Ala574Pro
ENST00000345728.9:c.1708G>C ENSP00000339950.5:p.Ala570Pro
ENST00000540554.1:n.344G>C
ENST00000545896.1:c.271G>C ENSP00000440209.1:p.Ala91Pro
NM_031471.5:c.1708G>C NP_113659.3:p.Ala570Pro
NM_178443.2:c.1720G>C , LRG_180t1:c.1720G>C NP_848537.1:p.Ala574Pro
XM_011545294.1:c.1720G>C XP_011543596.1:p.Ala574Pro
XM_011545295.1:c.1180G>C XP_011543597.1:p.Ala394Pro
XM_011545296.1:c.1180G>C XP_011543598.1:p.Ala394Pro
XM_011545294.3:c.1720G>C XP_011543596.1:p.Ala574Pro
XM_011545295.2:c.1180G>C XP_011543597.1:p.Ala394Pro
XM_017018398.2:c.1708G>C XP_016873887.1:p.Ala570Pro
XM_017018399.1:c.1168G>C XP_016873888.1:p.Ala390Pro
NM_031471.6:c.1708G>C MANE Select NP_113659.3:p.Ala570Pro
NM_001382361.1:c.1708G>C NP_001369290.1:p.Ala570Pro
NM_001382362.1:c.1720G>C NP_001369291.1:p.Ala574Pro
NM_001382363.1:c.1168G>C NP_001369292.1:p.Ala390Pro
NM_001382364.1:c.1180G>C NP_001369293.1:p.Ala394Pro
NM_001382448.1:c.1708G>C NP_001369377.1:p.Ala570Pro
NM_178443.3:c.1720G>C NP_848537.1:p.Ala574Pro