Canonical Allele Identifier: CA381089603
Gene: FERMT3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64223082A>C , CM000673.2:g.64223082A>C GRCh38
NC_000011.9:g.63990554A>C , CM000673.1:g.63990554A>C GRCh37
NC_000011.8:g.63747130A>C NCBI36
NG_016360.1:g.21403A>C , LRG_180:g.21403A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000279227.10:c.1717A>C ENSP00000279227.5:p.Ile573Leu
ENST00000540554.2:n.3229A>C
ENST00000541252.2:c.1165A>C ENSP00000438885.2:p.Ile389Leu
ENST00000544997.6:c.1705A>C ENSP00000445778.2:p.Ile569Leu
ENST00000545896.2:c.269A>C ENSP00000440209.2:p.His90Pro
ENST00000546255.2:n.2009A>C
ENST00000698845.1:c.*900A>C ENSP00000513981.1:n.*900A>C
ENST00000698846.1:n.1951A>C
ENST00000698847.1:c.*1110A>C ENSP00000513982.1:n.*1110A>C
ENST00000698850.1:n.3726A>C
ENST00000698852.1:c.1705A>C ENSP00000513984.1:p.Ile569Leu
ENST00000698853.1:c.*934A>C ENSP00000513985.1:n.*934A>C
ENST00000698854.1:c.*1035A>C ENSP00000513986.1:n.*1035A>C
ENST00000698855.1:n.3357A>C
ENST00000698856.1:n.3051A>C
ENST00000698859.1:n.2215A>C
ENST00000698860.1:c.1717A>C ENSP00000513988.1:p.Ile573Leu
ENST00000698861.1:c.1705A>C ENSP00000513989.1:p.Ile569Leu
ENST00000698862.1:c.*1001A>C ENSP00000513990.1:n.*1001A>C
ENST00000698863.1:c.1705A>C ENSP00000513991.1:p.Ile569Leu
ENST00000698864.1:n.2266A>C
ENST00000698865.1:c.1726A>C ENSP00000513992.1:p.Ile576Leu
ENST00000698866.1:c.*1493A>C ENSP00000513993.1:n.*1493A>C
ENST00000698867.1:n.5680A>C
ENST00000698868.1:c.1570A>C ENSP00000513994.1:p.Ile524Leu
ENST00000698869.1:c.1471A>C ENSP00000513995.1:p.Ile491Leu
ENST00000698870.1:c.1705A>C ENSP00000513996.1:p.Ile569Leu
ENST00000698871.1:n.2228A>C
ENST00000698872.1:c.*494A>C ENSP00000513997.1:n.*494A>C
ENST00000698873.1:c.*900A>C ENSP00000513998.1:n.*900A>C
ENST00000698874.1:c.1165A>C ENSP00000513999.1:p.Ile389Leu
ENST00000698875.1:n.1565A>C
ENST00000698876.1:n.1753A>C
ENST00000698877.1:n.1273A>C
ENST00000698878.1:c.1699A>C ENSP00000514000.1:p.Ile567Leu
ENST00000698880.1:c.1573A>C
ENST00000345728.10:c.1705A>C MANE Select ENSP00000339950.5:p.Ile569Leu
ENST00000279227.9:c.1717A>C ENSP00000279227.5:p.Ile573Leu
ENST00000345728.9:c.1705A>C ENSP00000339950.5:p.Ile569Leu
ENST00000540554.1:n.341A>C
ENST00000545896.1:c.268A>C ENSP00000440209.1:p.Ile90Leu
NM_031471.5:c.1705A>C NP_113659.3:p.Ile569Leu
NM_178443.2:c.1717A>C , LRG_180t1:c.1717A>C NP_848537.1:p.Ile573Leu
XM_011545294.1:c.1717A>C XP_011543596.1:p.Ile573Leu
XM_011545295.1:c.1177A>C XP_011543597.1:p.Ile393Leu
XM_011545296.1:c.1177A>C XP_011543598.1:p.Ile393Leu
XM_011545294.3:c.1717A>C XP_011543596.1:p.Ile573Leu
XM_011545295.2:c.1177A>C XP_011543597.1:p.Ile393Leu
XM_017018398.2:c.1705A>C XP_016873887.1:p.Ile569Leu
XM_017018399.1:c.1165A>C XP_016873888.1:p.Ile389Leu
NM_031471.6:c.1705A>C MANE Select NP_113659.3:p.Ile569Leu
NM_001382361.1:c.1705A>C NP_001369290.1:p.Ile569Leu
NM_001382362.1:c.1717A>C NP_001369291.1:p.Ile573Leu
NM_001382363.1:c.1165A>C NP_001369292.1:p.Ile389Leu
NM_001382364.1:c.1177A>C NP_001369293.1:p.Ile393Leu
NM_001382448.1:c.1705A>C NP_001369377.1:p.Ile569Leu
NM_178443.3:c.1717A>C NP_848537.1:p.Ile573Leu