Canonical Allele Identifier: CA381088544
Gene: FERMT3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64220669G>A , CM000673.2:g.64220669G>A GRCh38
NC_000011.9:g.63988141G>A , CM000673.1:g.63988141G>A GRCh37
NC_000011.8:g.63744717G>A NCBI36
NG_016360.1:g.18990G>A , LRG_180:g.18990G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000279227.10:c.1557G>A ENSP00000279227.5:p.Gln519=
ENST00000540554.2:n.2723G>A
ENST00000541252.2:c.1005G>A ENSP00000438885.2:p.Gln335=
ENST00000541326.6:n.966G>A
ENST00000544997.6:c.1545G>A ENSP00000445778.2:p.Gln515=
ENST00000545896.2:c.234G>A ENSP00000440209.2:p.Gln78=
ENST00000546255.2:n.1849G>A
ENST00000698845.1:c.*740G>A ENSP00000513981.1:n.*740G>A
ENST00000698846.1:n.1791G>A
ENST00000698847.1:c.*950G>A ENSP00000513982.1:n.*950G>A
ENST00000698850.1:n.1313G>A
ENST00000698852.1:c.1545G>A ENSP00000513984.1:p.Gln515=
ENST00000698853.1:c.*774G>A ENSP00000513985.1:n.*774G>A
ENST00000698854.1:c.*875G>A ENSP00000513986.1:n.*875G>A
ENST00000698855.1:n.3197G>A
ENST00000698856.1:n.2891G>A
ENST00000698859.1:n.1709G>A
ENST00000698860.1:c.1557G>A ENSP00000513988.1:p.Gln519=
ENST00000698861.1:c.1545G>A ENSP00000513989.1:p.Gln515=
ENST00000698862.1:c.*841G>A ENSP00000513990.1:n.*841G>A
ENST00000698863.1:c.1545G>A ENSP00000513991.1:p.Gln515=
ENST00000698864.1:n.1760G>A
ENST00000698865.1:c.1566G>A ENSP00000513992.1:p.Gln522=
ENST00000698866.1:c.*1059G>A ENSP00000513993.1:n.*1059G>A
ENST00000698867.1:n.5520G>A
ENST00000698868.1:c.1410G>A ENSP00000513994.1:p.Gln470=
ENST00000698869.1:c.1311+343G>A ENSP00000513995.1:n.1311+343G>A
ENST00000698870.1:c.1545G>A ENSP00000513996.1:p.Gln515=
ENST00000698871.1:n.2068G>A
ENST00000698872.1:c.*334G>A ENSP00000513997.1:n.*334G>A
ENST00000698873.1:c.*740G>A ENSP00000513998.1:n.*740G>A
ENST00000698874.1:c.1005G>A ENSP00000513999.1:p.Gln335=
ENST00000698875.1:n.1405G>A
ENST00000698876.1:n.1593G>A
ENST00000698877.1:n.1113G>A
ENST00000698878.1:c.1539G>A ENSP00000514000.1:p.Gln513=
ENST00000698880.1:c.1413G>A
ENST00000345728.10:c.1545G>A MANE Select ENSP00000339950.5:p.Gln515=
ENST00000279227.9:c.1557G>A ENSP00000279227.5:p.Gln519=
ENST00000345728.9:c.1545G>A ENSP00000339950.5:p.Gln515=
ENST00000545896.1:c.233G>A ENSP00000440209.1:p.Arg78Lys
NM_031471.5:c.1545G>A NP_113659.3:p.Gln515=
NM_178443.2:c.1557G>A , LRG_180t1:c.1557G>A NP_848537.1:p.Gln519=
XM_011545294.1:c.1557G>A XP_011543596.1:p.Gln519=
XM_011545295.1:c.1017G>A XP_011543597.1:p.Gln339=
XM_011545296.1:c.1017G>A XP_011543598.1:p.Gln339=
XM_011545294.3:c.1557G>A XP_011543596.1:p.Gln519=
XM_011545295.2:c.1017G>A XP_011543597.1:p.Gln339=
XM_017018398.2:c.1545G>A XP_016873887.1:p.Gln515=
XM_017018399.1:c.1005G>A XP_016873888.1:p.Gln335=
NM_031471.6:c.1545G>A MANE Select NP_113659.3:p.Gln515=
NM_001382361.1:c.1545G>A NP_001369290.1:p.Gln515=
NM_001382362.1:c.1557G>A NP_001369291.1:p.Gln519=
NM_001382363.1:c.1005G>A NP_001369292.1:p.Gln335=
NM_001382364.1:c.1017G>A NP_001369293.1:p.Gln339=
NM_001382448.1:c.1545G>A NP_001369377.1:p.Gln515=
NM_178443.3:c.1557G>A NP_848537.1:p.Gln519=