Canonical Allele Identifier: CA381088230
Gene: FERMT3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64220616A>C , CM000673.2:g.64220616A>C GRCh38
NC_000011.9:g.63988088A>C , CM000673.1:g.63988088A>C GRCh37
NC_000011.8:g.63744664A>C NCBI36
NG_016360.1:g.18937A>C , LRG_180:g.18937A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000279227.10:c.1504A>C ENSP00000279227.5:p.Asn502His
ENST00000540554.2:n.2670A>C
ENST00000541252.2:c.952A>C ENSP00000438885.2:p.Asn318His
ENST00000541326.6:n.913A>C
ENST00000544997.6:c.1492A>C ENSP00000445778.2:p.Asn498His
ENST00000545896.2:c.181A>C ENSP00000440209.2:p.Asn61His
ENST00000546255.2:n.1796A>C
ENST00000698845.1:c.*687A>C ENSP00000513981.1:n.*687A>C
ENST00000698846.1:n.1738A>C
ENST00000698847.1:c.*897A>C ENSP00000513982.1:n.*897A>C
ENST00000698849.1:n.612A>C
ENST00000698850.1:n.1260A>C
ENST00000698852.1:c.1492A>C ENSP00000513984.1:p.Asn498His
ENST00000698853.1:c.*721A>C ENSP00000513985.1:n.*721A>C
ENST00000698854.1:c.*822A>C ENSP00000513986.1:n.*822A>C
ENST00000698855.1:n.3144A>C
ENST00000698856.1:n.2838A>C
ENST00000698859.1:n.1656A>C
ENST00000698860.1:c.1504A>C ENSP00000513988.1:p.Asn502His
ENST00000698861.1:c.1492A>C ENSP00000513989.1:p.Asn498His
ENST00000698862.1:c.*788A>C ENSP00000513990.1:n.*788A>C
ENST00000698863.1:c.1492A>C ENSP00000513991.1:p.Asn498His
ENST00000698864.1:n.1707A>C
ENST00000698865.1:c.1513A>C ENSP00000513992.1:p.Asn505His
ENST00000698866.1:c.*1006A>C ENSP00000513993.1:n.*1006A>C
ENST00000698867.1:n.5467A>C
ENST00000698868.1:c.1357A>C ENSP00000513994.1:p.Asn453His
ENST00000698869.1:c.1311+290A>C ENSP00000513995.1:n.1311+290A>C
ENST00000698870.1:c.1492A>C ENSP00000513996.1:p.Asn498His
ENST00000698871.1:n.2015A>C
ENST00000698872.1:c.*281A>C ENSP00000513997.1:n.*281A>C
ENST00000698873.1:c.*687A>C ENSP00000513998.1:n.*687A>C
ENST00000698874.1:c.952A>C ENSP00000513999.1:p.Asn318His
ENST00000698875.1:n.1352A>C
ENST00000698876.1:n.1540A>C
ENST00000698877.1:n.1060A>C
ENST00000698878.1:c.1486A>C ENSP00000514000.1:p.Asn496His
ENST00000698880.1:c.1360A>C
ENST00000345728.10:c.1492A>C MANE Select ENSP00000339950.5:p.Asn498His
ENST00000279227.9:c.1504A>C ENSP00000279227.5:p.Asn502His
ENST00000345728.9:c.1492A>C ENSP00000339950.5:p.Asn498His
ENST00000545896.1:c.180A>C ENSP00000440209.1:p.Ser60=
NM_031471.5:c.1492A>C NP_113659.3:p.Asn498His
NM_178443.2:c.1504A>C , LRG_180t1:c.1504A>C NP_848537.1:p.Asn502His
XM_011545294.1:c.1504A>C XP_011543596.1:p.Asn502His
XM_011545295.1:c.964A>C XP_011543597.1:p.Asn322His
XM_011545296.1:c.964A>C XP_011543598.1:p.Asn322His
XM_011545294.3:c.1504A>C XP_011543596.1:p.Asn502His
XM_011545295.2:c.964A>C XP_011543597.1:p.Asn322His
XM_017018398.2:c.1492A>C XP_016873887.1:p.Asn498His
XM_017018399.1:c.952A>C XP_016873888.1:p.Asn318His
NM_031471.6:c.1492A>C MANE Select NP_113659.3:p.Asn498His
NM_001382361.1:c.1492A>C NP_001369290.1:p.Asn498His
NM_001382362.1:c.1504A>C NP_001369291.1:p.Asn502His
NM_001382363.1:c.952A>C NP_001369292.1:p.Asn318His
NM_001382364.1:c.964A>C NP_001369293.1:p.Asn322His
NM_001382448.1:c.1492A>C NP_001369377.1:p.Asn498His
NM_178443.3:c.1504A>C NP_848537.1:p.Asn502His