Canonical Allele Identifier: CA381087023
Gene: FERMT3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64220252G>C , CM000673.2:g.64220252G>C GRCh38
NC_000011.9:g.63987724G>C , CM000673.1:g.63987724G>C GRCh37
NC_000011.8:g.63744300G>C NCBI36
NG_016360.1:g.18573G>C , LRG_180:g.18573G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000279227.10:c.1249G>C ENSP00000279227.5:p.Gly417Arg
ENST00000540554.2:n.2306G>C
ENST00000541252.2:c.697G>C ENSP00000438885.2:p.Gly233Arg
ENST00000541326.6:n.549G>C
ENST00000544997.6:c.1237G>C ENSP00000445778.2:p.Gly413Arg
ENST00000546255.2:n.1432G>C
ENST00000698845.1:c.*432G>C ENSP00000513981.1:n.*432G>C
ENST00000698846.1:n.1374G>C
ENST00000698847.1:c.*642G>C ENSP00000513982.1:n.*642G>C
ENST00000698848.1:n.426G>C
ENST00000698849.1:n.357G>C
ENST00000698850.1:n.896G>C
ENST00000698852.1:c.1237G>C ENSP00000513984.1:p.Gly413Arg
ENST00000698853.1:c.*466G>C ENSP00000513985.1:n.*466G>C
ENST00000698854.1:c.*567G>C ENSP00000513986.1:n.*567G>C
ENST00000698855.1:n.2889G>C
ENST00000698856.1:n.2474G>C
ENST00000698859.1:n.1401G>C
ENST00000698860.1:c.1249G>C ENSP00000513988.1:p.Gly417Arg
ENST00000698861.1:c.1237G>C ENSP00000513989.1:p.Gly413Arg
ENST00000698862.1:c.*533G>C ENSP00000513990.1:n.*533G>C
ENST00000698863.1:c.1237G>C ENSP00000513991.1:p.Gly413Arg
ENST00000698864.1:n.1343G>C
ENST00000698865.1:c.1258G>C ENSP00000513992.1:p.Gly420Arg
ENST00000698866.1:c.*642G>C ENSP00000513993.1:n.*642G>C
ENST00000698867.1:n.5212G>C
ENST00000698868.1:c.1102G>C ENSP00000513994.1:p.Gly368Arg
ENST00000698869.1:c.1237G>C ENSP00000513995.1:p.Gly413Arg
ENST00000698870.1:c.1237G>C ENSP00000513996.1:p.Gly413Arg
ENST00000698871.1:n.1760G>C
ENST00000698872.1:c.*26G>C ENSP00000513997.1:n.*26G>C
ENST00000698873.1:c.*432G>C ENSP00000513998.1:n.*432G>C
ENST00000698874.1:c.697G>C ENSP00000513999.1:p.Gly233Arg
ENST00000698875.1:n.1097G>C
ENST00000698876.1:n.1176G>C
ENST00000698877.1:n.805G>C
ENST00000698878.1:c.1237G>C ENSP00000514000.1:p.Gly413Arg
ENST00000698880.1:c.1077G>C
ENST00000345728.10:c.1237G>C MANE Select ENSP00000339950.5:p.Gly413Arg
ENST00000279227.9:c.1249G>C ENSP00000279227.5:p.Gly417Arg
ENST00000345728.9:c.1237G>C ENSP00000339950.5:p.Gly413Arg
ENST00000540957.1:n.390G>C
ENST00000541326.5:n.544G>C
NM_031471.5:c.1237G>C NP_113659.3:p.Gly413Arg
NM_178443.2:c.1249G>C , LRG_180t1:c.1249G>C NP_848537.1:p.Gly417Arg
XM_011545294.1:c.1249G>C XP_011543596.1:p.Gly417Arg
XM_011545295.1:c.709G>C XP_011543597.1:p.Gly237Arg
XM_011545296.1:c.709G>C XP_011543598.1:p.Gly237Arg
XM_011545294.3:c.1249G>C XP_011543596.1:p.Gly417Arg
XM_011545295.2:c.709G>C XP_011543597.1:p.Gly237Arg
XM_017018398.2:c.1237G>C XP_016873887.1:p.Gly413Arg
XM_017018399.1:c.697G>C XP_016873888.1:p.Gly233Arg
NM_031471.6:c.1237G>C MANE Select NP_113659.3:p.Gly413Arg
NM_001382361.1:c.1237G>C NP_001369290.1:p.Gly413Arg
NM_001382362.1:c.1249G>C NP_001369291.1:p.Gly417Arg
NM_001382363.1:c.697G>C NP_001369292.1:p.Gly233Arg
NM_001382364.1:c.709G>C NP_001369293.1:p.Gly237Arg
NM_001382448.1:c.1237G>C NP_001369377.1:p.Gly413Arg
NM_178443.3:c.1249G>C NP_848537.1:p.Gly417Arg