Canonical Allele Identifier: CA381089804
Gene: FERMT3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64223121G>C , CM000673.2:g.64223121G>C GRCh38
NC_000011.9:g.63990593G>C , CM000673.1:g.63990593G>C GRCh37
NC_000011.8:g.63747169G>C NCBI36
NG_016360.1:g.21442G>C , LRG_180:g.21442G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000279227.10:c.1756G>C ENSP00000279227.5:p.Gly586Arg
ENST00000540554.2:n.3268G>C
ENST00000541252.2:c.1204G>C ENSP00000438885.2:p.Gly402Arg
ENST00000544997.6:c.1744G>C ENSP00000445778.2:p.Gly582Arg
ENST00000545896.2:c.308G>C ENSP00000440209.2:p.Gly103Ala
ENST00000546255.2:n.2048G>C
ENST00000698845.1:c.*939G>C ENSP00000513981.1:n.*939G>C
ENST00000698846.1:n.1990G>C
ENST00000698847.1:c.*1149G>C ENSP00000513982.1:n.*1149G>C
ENST00000698850.1:n.3765G>C
ENST00000698852.1:c.1744G>C ENSP00000513984.1:p.Gly582Arg
ENST00000698853.1:c.*973G>C ENSP00000513985.1:n.*973G>C
ENST00000698854.1:c.*1074G>C ENSP00000513986.1:n.*1074G>C
ENST00000698855.1:n.3396G>C
ENST00000698856.1:n.3090G>C
ENST00000698859.1:n.2254G>C
ENST00000698860.1:c.1756G>C ENSP00000513988.1:p.Gly586Arg
ENST00000698861.1:c.1744G>C ENSP00000513989.1:p.Gly582Arg
ENST00000698862.1:c.*1040G>C ENSP00000513990.1:n.*1040G>C
ENST00000698863.1:c.1744G>C ENSP00000513991.1:p.Gly582Arg
ENST00000698864.1:n.2305G>C
ENST00000698865.1:c.1765G>C ENSP00000513992.1:p.Gly589Arg
ENST00000698866.1:c.*1532G>C ENSP00000513993.1:n.*1532G>C
ENST00000698867.1:n.5719G>C
ENST00000698868.1:c.1609G>C ENSP00000513994.1:p.Gly537Arg
ENST00000698869.1:c.1510G>C ENSP00000513995.1:p.Gly504Arg
ENST00000698870.1:c.1744G>C ENSP00000513996.1:p.Gly582Arg
ENST00000698871.1:n.2267G>C
ENST00000698872.1:c.*533G>C ENSP00000513997.1:n.*533G>C
ENST00000698873.1:c.*939G>C ENSP00000513998.1:n.*939G>C
ENST00000698874.1:c.1204G>C ENSP00000513999.1:p.Gly402Arg
ENST00000698875.1:n.1604G>C
ENST00000698876.1:n.1792G>C
ENST00000698877.1:n.1312G>C
ENST00000698878.1:c.1738G>C ENSP00000514000.1:p.Gly580Arg
ENST00000698880.1:c.1612G>C
ENST00000345728.10:c.1744G>C MANE Select ENSP00000339950.5:p.Gly582Arg
ENST00000279227.9:c.1756G>C ENSP00000279227.5:p.Gly586Arg
ENST00000345728.9:c.1744G>C ENSP00000339950.5:p.Gly582Arg
ENST00000545896.1:c.307G>C ENSP00000440209.1:p.Gly103Arg
NM_031471.5:c.1744G>C NP_113659.3:p.Gly582Arg
NM_178443.2:c.1756G>C , LRG_180t1:c.1756G>C NP_848537.1:p.Gly586Arg
XM_011545294.1:c.1756G>C XP_011543596.1:p.Gly586Arg
XM_011545295.1:c.1216G>C XP_011543597.1:p.Gly406Arg
XM_011545296.1:c.1216G>C XP_011543598.1:p.Gly406Arg
XM_011545294.3:c.1756G>C XP_011543596.1:p.Gly586Arg
XM_011545295.2:c.1216G>C XP_011543597.1:p.Gly406Arg
XM_017018398.2:c.1744G>C XP_016873887.1:p.Gly582Arg
XM_017018399.1:c.1204G>C XP_016873888.1:p.Gly402Arg
NM_031471.6:c.1744G>C MANE Select NP_113659.3:p.Gly582Arg
NM_001382361.1:c.1744G>C NP_001369290.1:p.Gly582Arg
NM_001382362.1:c.1756G>C NP_001369291.1:p.Gly586Arg
NM_001382363.1:c.1204G>C NP_001369292.1:p.Gly402Arg
NM_001382364.1:c.1216G>C NP_001369293.1:p.Gly406Arg
NM_001382448.1:c.1744G>C NP_001369377.1:p.Gly582Arg
NM_178443.3:c.1756G>C NP_848537.1:p.Gly586Arg