Canonical Allele Identifier: CA381090193
Gene: FERMT3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64223188A>T , CM000673.2:g.64223188A>T GRCh38
NC_000011.9:g.63990660A>T , CM000673.1:g.63990660A>T GRCh37
NC_000011.8:g.63747236A>T NCBI36
NG_016360.1:g.21509A>T , LRG_180:g.21509A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000279227.10:c.1823A>T ENSP00000279227.5:p.Gln608Leu
ENST00000540554.2:n.3335A>T
ENST00000541252.2:c.1271A>T ENSP00000438885.2:p.Gln424Leu
ENST00000544997.6:c.1811A>T ENSP00000445778.2:p.Gln604Leu
ENST00000545896.2:c.375A>T ENSP00000440209.2:p.Ala125=
ENST00000546255.2:n.2115A>T
ENST00000698845.1:c.*1006A>T ENSP00000513981.1:n.*1006A>T
ENST00000698846.1:n.2057A>T
ENST00000698847.1:c.*1216A>T ENSP00000513982.1:n.*1216A>T
ENST00000698850.1:n.3832A>T
ENST00000698852.1:c.1811A>T ENSP00000513984.1:p.Gln604Leu
ENST00000698853.1:c.*1040A>T ENSP00000513985.1:n.*1040A>T
ENST00000698854.1:c.*1141A>T ENSP00000513986.1:n.*1141A>T
ENST00000698855.1:n.3463A>T
ENST00000698856.1:n.3157A>T
ENST00000698859.1:n.2321A>T
ENST00000698860.1:c.1823A>T ENSP00000513988.1:p.Gln608Leu
ENST00000698861.1:c.1811A>T ENSP00000513989.1:p.Gln604Leu
ENST00000698862.1:c.*1107A>T ENSP00000513990.1:n.*1107A>T
ENST00000698863.1:c.1811A>T ENSP00000513991.1:p.Gln604Leu
ENST00000698864.1:n.2372A>T
ENST00000698865.1:c.1832A>T ENSP00000513992.1:p.Gln611Leu
ENST00000698866.1:c.*1599A>T ENSP00000513993.1:n.*1599A>T
ENST00000698867.1:n.5786A>T
ENST00000698868.1:c.1676A>T ENSP00000513994.1:p.Gln559Leu
ENST00000698869.1:c.1577A>T ENSP00000513995.1:p.Gln526Leu
ENST00000698870.1:c.1811A>T ENSP00000513996.1:p.Gln604Leu
ENST00000698871.1:n.2334A>T
ENST00000698872.1:c.*600A>T ENSP00000513997.1:n.*600A>T
ENST00000698873.1:c.*1006A>T ENSP00000513998.1:n.*1006A>T
ENST00000698874.1:c.1271A>T ENSP00000513999.1:p.Gln424Leu
ENST00000698875.1:n.1671A>T
ENST00000698876.1:n.1859A>T
ENST00000698877.1:n.1379A>T
ENST00000698878.1:c.1805A>T ENSP00000514000.1:p.Gln602Leu
ENST00000698880.1:c.1679A>T
ENST00000345728.10:c.1811A>T MANE Select ENSP00000339950.5:p.Gln604Leu
ENST00000279227.9:c.1823A>T ENSP00000279227.5:p.Gln608Leu
ENST00000345728.9:c.1811A>T ENSP00000339950.5:p.Gln604Leu
ENST00000545896.1:c.374A>T ENSP00000440209.1:p.Gln125Leu
NM_031471.5:c.1811A>T NP_113659.3:p.Gln604Leu
NM_178443.2:c.1823A>T , LRG_180t1:c.1823A>T NP_848537.1:p.Gln608Leu
XM_011545294.1:c.1823A>T XP_011543596.1:p.Gln608Leu
XM_011545295.1:c.1283A>T XP_011543597.1:p.Gln428Leu
XM_011545296.1:c.1283A>T XP_011543598.1:p.Gln428Leu
XM_011545294.3:c.1823A>T XP_011543596.1:p.Gln608Leu
XM_011545295.2:c.1283A>T XP_011543597.1:p.Gln428Leu
XM_017018398.2:c.1811A>T XP_016873887.1:p.Gln604Leu
XM_017018399.1:c.1271A>T XP_016873888.1:p.Gln424Leu
NM_031471.6:c.1811A>T MANE Select NP_113659.3:p.Gln604Leu
NM_001382361.1:c.1811A>T NP_001369290.1:p.Gln604Leu
NM_001382362.1:c.1823A>T NP_001369291.1:p.Gln608Leu
NM_001382363.1:c.1271A>T NP_001369292.1:p.Gln424Leu
NM_001382364.1:c.1283A>T NP_001369293.1:p.Gln428Leu
NM_001382448.1:c.1811A>T NP_001369377.1:p.Gln604Leu
NM_178443.3:c.1823A>T NP_848537.1:p.Gln608Leu