Canonical Allele Identifier: CA381089595
Gene: FERMT3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64223079G>C , CM000673.2:g.64223079G>C GRCh38
NC_000011.9:g.63990551G>C , CM000673.1:g.63990551G>C GRCh37
NC_000011.8:g.63747127G>C NCBI36
NG_016360.1:g.21400G>C , LRG_180:g.21400G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000279227.10:c.1714G>C ENSP00000279227.5:p.Gly572Arg
ENST00000540554.2:n.3226G>C
ENST00000541252.2:c.1162G>C ENSP00000438885.2:p.Gly388Arg
ENST00000544997.6:c.1702G>C ENSP00000445778.2:p.Gly568Arg
ENST00000545896.2:c.266G>C ENSP00000440209.2:p.Gly89Ala
ENST00000546255.2:n.2006G>C
ENST00000698845.1:c.*897G>C ENSP00000513981.1:n.*897G>C
ENST00000698846.1:n.1948G>C
ENST00000698847.1:c.*1107G>C ENSP00000513982.1:n.*1107G>C
ENST00000698850.1:n.3723G>C
ENST00000698852.1:c.1702G>C ENSP00000513984.1:p.Gly568Arg
ENST00000698853.1:c.*931G>C ENSP00000513985.1:n.*931G>C
ENST00000698854.1:c.*1032G>C ENSP00000513986.1:n.*1032G>C
ENST00000698855.1:n.3354G>C
ENST00000698856.1:n.3048G>C
ENST00000698859.1:n.2212G>C
ENST00000698860.1:c.1714G>C ENSP00000513988.1:p.Gly572Arg
ENST00000698861.1:c.1702G>C ENSP00000513989.1:p.Gly568Arg
ENST00000698862.1:c.*998G>C ENSP00000513990.1:n.*998G>C
ENST00000698863.1:c.1702G>C ENSP00000513991.1:p.Gly568Arg
ENST00000698864.1:n.2263G>C
ENST00000698865.1:c.1723G>C ENSP00000513992.1:p.Gly575Arg
ENST00000698866.1:c.*1490G>C ENSP00000513993.1:n.*1490G>C
ENST00000698867.1:n.5677G>C
ENST00000698868.1:c.1567G>C ENSP00000513994.1:p.Gly523Arg
ENST00000698869.1:c.1468G>C ENSP00000513995.1:p.Gly490Arg
ENST00000698870.1:c.1702G>C ENSP00000513996.1:p.Gly568Arg
ENST00000698871.1:n.2225G>C
ENST00000698872.1:c.*491G>C ENSP00000513997.1:n.*491G>C
ENST00000698873.1:c.*897G>C ENSP00000513998.1:n.*897G>C
ENST00000698874.1:c.1162G>C ENSP00000513999.1:p.Gly388Arg
ENST00000698875.1:n.1562G>C
ENST00000698876.1:n.1750G>C
ENST00000698877.1:n.1270G>C
ENST00000698878.1:c.1696G>C ENSP00000514000.1:p.Gly566Arg
ENST00000698880.1:c.1570G>C
ENST00000345728.10:c.1702G>C MANE Select ENSP00000339950.5:p.Gly568Arg
ENST00000279227.9:c.1714G>C ENSP00000279227.5:p.Gly572Arg
ENST00000345728.9:c.1702G>C ENSP00000339950.5:p.Gly568Arg
ENST00000540554.1:n.338G>C
ENST00000545896.1:c.265G>C ENSP00000440209.1:p.Gly89Arg
NM_031471.5:c.1702G>C NP_113659.3:p.Gly568Arg
NM_178443.2:c.1714G>C , LRG_180t1:c.1714G>C NP_848537.1:p.Gly572Arg
XM_011545294.1:c.1714G>C XP_011543596.1:p.Gly572Arg
XM_011545295.1:c.1174G>C XP_011543597.1:p.Gly392Arg
XM_011545296.1:c.1174G>C XP_011543598.1:p.Gly392Arg
XM_011545294.3:c.1714G>C XP_011543596.1:p.Gly572Arg
XM_011545295.2:c.1174G>C XP_011543597.1:p.Gly392Arg
XM_017018398.2:c.1702G>C XP_016873887.1:p.Gly568Arg
XM_017018399.1:c.1162G>C XP_016873888.1:p.Gly388Arg
NM_031471.6:c.1702G>C MANE Select NP_113659.3:p.Gly568Arg
NM_001382361.1:c.1702G>C NP_001369290.1:p.Gly568Arg
NM_001382362.1:c.1714G>C NP_001369291.1:p.Gly572Arg
NM_001382363.1:c.1162G>C NP_001369292.1:p.Gly388Arg
NM_001382364.1:c.1174G>C NP_001369293.1:p.Gly392Arg
NM_001382448.1:c.1702G>C NP_001369377.1:p.Gly568Arg
NM_178443.3:c.1714G>C NP_848537.1:p.Gly572Arg