Canonical Allele Identifier: CA381088508
Gene: FERMT3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64220656T>C , CM000673.2:g.64220656T>C GRCh38
NC_000011.9:g.63988128T>C , CM000673.1:g.63988128T>C GRCh37
NC_000011.8:g.63744704T>C NCBI36
NG_016360.1:g.18977T>C , LRG_180:g.18977T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000279227.10:c.1544T>C ENSP00000279227.5:p.Phe515Ser
ENST00000540554.2:n.2710T>C
ENST00000541252.2:c.992T>C ENSP00000438885.2:p.Phe331Ser
ENST00000541326.6:n.953T>C
ENST00000544997.6:c.1532T>C ENSP00000445778.2:p.Phe511Ser
ENST00000545896.2:c.221T>C ENSP00000440209.2:p.Phe74Ser
ENST00000546255.2:n.1836T>C
ENST00000698845.1:c.*727T>C ENSP00000513981.1:n.*727T>C
ENST00000698846.1:n.1778T>C
ENST00000698847.1:c.*937T>C ENSP00000513982.1:n.*937T>C
ENST00000698849.1:n.652T>C
ENST00000698850.1:n.1300T>C
ENST00000698852.1:c.1532T>C ENSP00000513984.1:p.Phe511Ser
ENST00000698853.1:c.*761T>C ENSP00000513985.1:n.*761T>C
ENST00000698854.1:c.*862T>C ENSP00000513986.1:n.*862T>C
ENST00000698855.1:n.3184T>C
ENST00000698856.1:n.2878T>C
ENST00000698859.1:n.1696T>C
ENST00000698860.1:c.1544T>C ENSP00000513988.1:p.Phe515Ser
ENST00000698861.1:c.1532T>C ENSP00000513989.1:p.Phe511Ser
ENST00000698862.1:c.*828T>C ENSP00000513990.1:n.*828T>C
ENST00000698863.1:c.1532T>C ENSP00000513991.1:p.Phe511Ser
ENST00000698864.1:n.1747T>C
ENST00000698865.1:c.1553T>C ENSP00000513992.1:p.Phe518Ser
ENST00000698866.1:c.*1046T>C ENSP00000513993.1:n.*1046T>C
ENST00000698867.1:n.5507T>C
ENST00000698868.1:c.1397T>C ENSP00000513994.1:p.Phe466Ser
ENST00000698869.1:c.1311+330T>C ENSP00000513995.1:n.1311+330T>C
ENST00000698870.1:c.1532T>C ENSP00000513996.1:p.Phe511Ser
ENST00000698871.1:n.2055T>C
ENST00000698872.1:c.*321T>C ENSP00000513997.1:n.*321T>C
ENST00000698873.1:c.*727T>C ENSP00000513998.1:n.*727T>C
ENST00000698874.1:c.992T>C ENSP00000513999.1:p.Phe331Ser
ENST00000698875.1:n.1392T>C
ENST00000698876.1:n.1580T>C
ENST00000698877.1:n.1100T>C
ENST00000698878.1:c.1526T>C ENSP00000514000.1:p.Phe509Ser
ENST00000698880.1:c.1400T>C
ENST00000345728.10:c.1532T>C MANE Select ENSP00000339950.5:p.Phe511Ser
ENST00000279227.9:c.1544T>C ENSP00000279227.5:p.Phe515Ser
ENST00000345728.9:c.1532T>C ENSP00000339950.5:p.Phe511Ser
ENST00000545896.1:c.220T>C ENSP00000440209.1:p.Ser74Pro
NM_031471.5:c.1532T>C NP_113659.3:p.Phe511Ser
NM_178443.2:c.1544T>C , LRG_180t1:c.1544T>C NP_848537.1:p.Phe515Ser
XM_011545294.1:c.1544T>C XP_011543596.1:p.Phe515Ser
XM_011545295.1:c.1004T>C XP_011543597.1:p.Phe335Ser
XM_011545296.1:c.1004T>C XP_011543598.1:p.Phe335Ser
XM_011545294.3:c.1544T>C XP_011543596.1:p.Phe515Ser
XM_011545295.2:c.1004T>C XP_011543597.1:p.Phe335Ser
XM_017018398.2:c.1532T>C XP_016873887.1:p.Phe511Ser
XM_017018399.1:c.992T>C XP_016873888.1:p.Phe331Ser
NM_031471.6:c.1532T>C MANE Select NP_113659.3:p.Phe511Ser
NM_001382361.1:c.1532T>C NP_001369290.1:p.Phe511Ser
NM_001382362.1:c.1544T>C NP_001369291.1:p.Phe515Ser
NM_001382363.1:c.992T>C NP_001369292.1:p.Phe331Ser
NM_001382364.1:c.1004T>C NP_001369293.1:p.Phe335Ser
NM_001382448.1:c.1532T>C NP_001369377.1:p.Phe511Ser
NM_178443.3:c.1544T>C NP_848537.1:p.Phe515Ser