Canonical Allele Identifier: CA381083819
Gene: FERMT3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64211695A>C , CM000673.2:g.64211695A>C GRCh38
NC_000011.9:g.63979167A>C , CM000673.1:g.63979167A>C GRCh37
NC_000011.8:g.63735743A>C NCBI36
NG_016360.1:g.10016A>C , LRG_180:g.10016A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000279227.10:c.734A>C ENSP00000279227.5:p.Asp245Ala
ENST00000541252.2:c.194A>C ENSP00000438885.2:p.Asp65Ala
ENST00000541326.6:n.51A>C
ENST00000544997.6:c.734A>C ENSP00000445778.2:p.Asp245Ala
ENST00000546255.2:n.828A>C
ENST00000698845.1:c.734A>C ENSP00000513981.1:p.Asp245Ala
ENST00000698846.1:n.871A>C
ENST00000698847.1:c.*139A>C ENSP00000513982.1:n.*139A>C
ENST00000698850.1:n.46A>C
ENST00000698852.1:c.734A>C ENSP00000513984.1:p.Asp245Ala
ENST00000698853.1:c.734A>C ENSP00000513985.1:p.Asp245Ala
ENST00000698854.1:c.734A>C ENSP00000513986.1:p.Asp245Ala
ENST00000698855.1:n.2386A>C
ENST00000698856.1:n.1654A>C
ENST00000698859.1:n.898A>C
ENST00000698860.1:c.734A>C ENSP00000513988.1:p.Asp245Ala
ENST00000698861.1:c.734A>C ENSP00000513989.1:p.Asp245Ala
ENST00000698862.1:c.734A>C ENSP00000513990.1:p.Asp245Ala
ENST00000698863.1:c.734A>C ENSP00000513991.1:p.Asp245Ala
ENST00000698864.1:n.840A>C
ENST00000698865.1:c.734A>C ENSP00000513992.1:p.Asp245Ala
ENST00000698866.1:c.*139A>C ENSP00000513993.1:n.*139A>C
ENST00000698867.1:n.4443A>C
ENST00000698868.1:c.734A>C ENSP00000513994.1:p.Asp245Ala
ENST00000698869.1:c.734A>C ENSP00000513995.1:p.Asp245Ala
ENST00000698870.1:c.734A>C ENSP00000513996.1:p.Asp245Ala
ENST00000698871.1:n.991A>C
ENST00000698872.1:c.194A>C ENSP00000513997.1:p.Asp65Ala
ENST00000698873.1:c.194A>C ENSP00000513998.1:p.Asp65Ala
ENST00000698874.1:c.194A>C ENSP00000513999.1:p.Asp65Ala
ENST00000698875.1:n.594A>C
ENST00000698878.1:c.734A>C ENSP00000514000.1:p.Asp245Ala
ENST00000698879.1:c.643A>C
ENST00000698880.1:c.574A>C
ENST00000345728.10:c.734A>C MANE Select ENSP00000339950.5:p.Asp245Ala
ENST00000279227.9:c.734A>C ENSP00000279227.5:p.Asp245Ala
ENST00000345728.9:c.734A>C ENSP00000339950.5:p.Asp245Ala
ENST00000541252.1:c.194A>C ENSP00000438885.1:p.Asp65Ala
ENST00000541326.5:n.46A>C
ENST00000544997.5:c.734A>C ENSP00000445778.1:p.Asp245Ala
NM_031471.5:c.734A>C NP_113659.3:p.Asp245Ala
NM_178443.2:c.734A>C , LRG_180t1:c.734A>C NP_848537.1:p.Asp245Ala
XM_011545294.1:c.734A>C XP_011543596.1:p.Asp245Ala
XM_011545295.1:c.194A>C XP_011543597.1:p.Asp65Ala
XM_011545296.1:c.194A>C XP_011543598.1:p.Asp65Ala
XM_011545294.3:c.734A>C XP_011543596.1:p.Asp245Ala
XM_011545295.2:c.194A>C XP_011543597.1:p.Asp65Ala
XM_017018398.2:c.734A>C XP_016873887.1:p.Asp245Ala
XM_017018399.1:c.194A>C XP_016873888.1:p.Asp65Ala
NM_031471.6:c.734A>C MANE Select NP_113659.3:p.Asp245Ala
NM_001382361.1:c.734A>C NP_001369290.1:p.Asp245Ala
NM_001382362.1:c.734A>C NP_001369291.1:p.Asp245Ala
NM_001382363.1:c.194A>C NP_001369292.1:p.Asp65Ala
NM_001382364.1:c.194A>C NP_001369293.1:p.Asp65Ala
NM_001382448.1:c.734A>C NP_001369377.1:p.Asp245Ala
NM_178443.3:c.734A>C NP_848537.1:p.Asp245Ala