Canonical Allele Identifier: CA381088006
Gene: FERMT3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64220590G>C , CM000673.2:g.64220590G>C GRCh38
NC_000011.9:g.63988062G>C , CM000673.1:g.63988062G>C GRCh37
NC_000011.8:g.63744638G>C NCBI36
NG_016360.1:g.18911G>C , LRG_180:g.18911G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000279227.10:c.1478G>C ENSP00000279227.5:p.Gly493Ala
ENST00000540554.2:n.2644G>C
ENST00000541252.2:c.926G>C ENSP00000438885.2:p.Gly309Ala
ENST00000541326.6:n.887G>C
ENST00000544997.6:c.1466G>C ENSP00000445778.2:p.Gly489Ala
ENST00000545896.2:c.155G>C ENSP00000440209.2:p.Gly52Ala
ENST00000546255.2:n.1770G>C
ENST00000698845.1:c.*661G>C ENSP00000513981.1:n.*661G>C
ENST00000698846.1:n.1712G>C
ENST00000698847.1:c.*871G>C ENSP00000513982.1:n.*871G>C
ENST00000698849.1:n.586G>C
ENST00000698850.1:n.1234G>C
ENST00000698852.1:c.1466G>C ENSP00000513984.1:p.Gly489Ala
ENST00000698853.1:c.*695G>C ENSP00000513985.1:n.*695G>C
ENST00000698854.1:c.*796G>C ENSP00000513986.1:n.*796G>C
ENST00000698855.1:n.3118G>C
ENST00000698856.1:n.2812G>C
ENST00000698859.1:n.1630G>C
ENST00000698860.1:c.1478G>C ENSP00000513988.1:p.Gly493Ala
ENST00000698861.1:c.1466G>C ENSP00000513989.1:p.Gly489Ala
ENST00000698862.1:c.*762G>C ENSP00000513990.1:n.*762G>C
ENST00000698863.1:c.1466G>C ENSP00000513991.1:p.Gly489Ala
ENST00000698864.1:n.1681G>C
ENST00000698865.1:c.1487G>C ENSP00000513992.1:p.Gly496Ala
ENST00000698866.1:c.*980G>C ENSP00000513993.1:n.*980G>C
ENST00000698867.1:n.5441G>C
ENST00000698868.1:c.1331G>C ENSP00000513994.1:p.Gly444Ala
ENST00000698869.1:c.1311+264G>C ENSP00000513995.1:n.1311+264G>C
ENST00000698870.1:c.1466G>C ENSP00000513996.1:p.Gly489Ala
ENST00000698871.1:n.1989G>C
ENST00000698872.1:c.*255G>C ENSP00000513997.1:n.*255G>C
ENST00000698873.1:c.*661G>C ENSP00000513998.1:n.*661G>C
ENST00000698874.1:c.926G>C ENSP00000513999.1:p.Gly309Ala
ENST00000698875.1:n.1326G>C
ENST00000698876.1:n.1514G>C
ENST00000698877.1:n.1034G>C
ENST00000698878.1:c.1460G>C ENSP00000514000.1:p.Gly487Ala
ENST00000698880.1:c.1334G>C
ENST00000345728.10:c.1466G>C MANE Select ENSP00000339950.5:p.Gly489Ala
ENST00000279227.9:c.1478G>C ENSP00000279227.5:p.Gly493Ala
ENST00000345728.9:c.1466G>C ENSP00000339950.5:p.Gly489Ala
ENST00000541326.5:n.882G>C
ENST00000545896.1:c.154G>C ENSP00000440209.1:p.Ala52Pro
NM_031471.5:c.1466G>C NP_113659.3:p.Gly489Ala
NM_178443.2:c.1478G>C , LRG_180t1:c.1478G>C NP_848537.1:p.Gly493Ala
XM_011545294.1:c.1478G>C XP_011543596.1:p.Gly493Ala
XM_011545295.1:c.938G>C XP_011543597.1:p.Gly313Ala
XM_011545296.1:c.938G>C XP_011543598.1:p.Gly313Ala
XM_011545294.3:c.1478G>C XP_011543596.1:p.Gly493Ala
XM_011545295.2:c.938G>C XP_011543597.1:p.Gly313Ala
XM_017018398.2:c.1466G>C XP_016873887.1:p.Gly489Ala
XM_017018399.1:c.926G>C XP_016873888.1:p.Gly309Ala
NM_031471.6:c.1466G>C MANE Select NP_113659.3:p.Gly489Ala
NM_001382361.1:c.1466G>C NP_001369290.1:p.Gly489Ala
NM_001382362.1:c.1478G>C NP_001369291.1:p.Gly493Ala
NM_001382363.1:c.926G>C NP_001369292.1:p.Gly309Ala
NM_001382364.1:c.938G>C NP_001369293.1:p.Gly313Ala
NM_001382448.1:c.1466G>C NP_001369377.1:p.Gly489Ala
NM_178443.3:c.1478G>C NP_848537.1:p.Gly493Ala