Canonical Allele Identifier: CA381090019
Gene: FERMT3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64223160C>G , CM000673.2:g.64223160C>G GRCh38
NC_000011.9:g.63990632C>G , CM000673.1:g.63990632C>G GRCh37
NC_000011.8:g.63747208C>G NCBI36
NG_016360.1:g.21481C>G , LRG_180:g.21481C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000279227.10:c.1795C>G ENSP00000279227.5:p.Gln599Glu
ENST00000540554.2:n.3307C>G
ENST00000541252.2:c.1243C>G ENSP00000438885.2:p.Gln415Glu
ENST00000544997.6:c.1783C>G ENSP00000445778.2:p.Gln595Glu
ENST00000545896.2:c.347C>G ENSP00000440209.2:p.Pro116Arg
ENST00000546255.2:n.2087C>G
ENST00000698845.1:c.*978C>G ENSP00000513981.1:n.*978C>G
ENST00000698846.1:n.2029C>G
ENST00000698847.1:c.*1188C>G ENSP00000513982.1:n.*1188C>G
ENST00000698850.1:n.3804C>G
ENST00000698852.1:c.1783C>G ENSP00000513984.1:p.Gln595Glu
ENST00000698853.1:c.*1012C>G ENSP00000513985.1:n.*1012C>G
ENST00000698854.1:c.*1113C>G ENSP00000513986.1:n.*1113C>G
ENST00000698855.1:n.3435C>G
ENST00000698856.1:n.3129C>G
ENST00000698859.1:n.2293C>G
ENST00000698860.1:c.1795C>G ENSP00000513988.1:p.Gln599Glu
ENST00000698861.1:c.1783C>G ENSP00000513989.1:p.Gln595Glu
ENST00000698862.1:c.*1079C>G ENSP00000513990.1:n.*1079C>G
ENST00000698863.1:c.1783C>G ENSP00000513991.1:p.Gln595Glu
ENST00000698864.1:n.2344C>G
ENST00000698865.1:c.1804C>G ENSP00000513992.1:p.Gln602Glu
ENST00000698866.1:c.*1571C>G ENSP00000513993.1:n.*1571C>G
ENST00000698867.1:n.5758C>G
ENST00000698868.1:c.1648C>G ENSP00000513994.1:p.Gln550Glu
ENST00000698869.1:c.1549C>G ENSP00000513995.1:p.Gln517Glu
ENST00000698870.1:c.1783C>G ENSP00000513996.1:p.Gln595Glu
ENST00000698871.1:n.2306C>G
ENST00000698872.1:c.*572C>G ENSP00000513997.1:n.*572C>G
ENST00000698873.1:c.*978C>G ENSP00000513998.1:n.*978C>G
ENST00000698874.1:c.1243C>G ENSP00000513999.1:p.Gln415Glu
ENST00000698875.1:n.1643C>G
ENST00000698876.1:n.1831C>G
ENST00000698877.1:n.1351C>G
ENST00000698878.1:c.1777C>G ENSP00000514000.1:p.Gln593Glu
ENST00000698880.1:c.1651C>G
ENST00000345728.10:c.1783C>G MANE Select ENSP00000339950.5:p.Gln595Glu
ENST00000279227.9:c.1795C>G ENSP00000279227.5:p.Gln599Glu
ENST00000345728.9:c.1783C>G ENSP00000339950.5:p.Gln595Glu
ENST00000545896.1:c.346C>G ENSP00000440209.1:p.Gln116Glu
NM_031471.5:c.1783C>G NP_113659.3:p.Gln595Glu
NM_178443.2:c.1795C>G , LRG_180t1:c.1795C>G NP_848537.1:p.Gln599Glu
XM_011545294.1:c.1795C>G XP_011543596.1:p.Gln599Glu
XM_011545295.1:c.1255C>G XP_011543597.1:p.Gln419Glu
XM_011545296.1:c.1255C>G XP_011543598.1:p.Gln419Glu
XM_011545294.3:c.1795C>G XP_011543596.1:p.Gln599Glu
XM_011545295.2:c.1255C>G XP_011543597.1:p.Gln419Glu
XM_017018398.2:c.1783C>G XP_016873887.1:p.Gln595Glu
XM_017018399.1:c.1243C>G XP_016873888.1:p.Gln415Glu
NM_031471.6:c.1783C>G MANE Select NP_113659.3:p.Gln595Glu
NM_001382361.1:c.1783C>G NP_001369290.1:p.Gln595Glu
NM_001382362.1:c.1795C>G NP_001369291.1:p.Gln599Glu
NM_001382363.1:c.1243C>G NP_001369292.1:p.Gln415Glu
NM_001382364.1:c.1255C>G NP_001369293.1:p.Gln419Glu
NM_001382448.1:c.1783C>G NP_001369377.1:p.Gln595Glu
NM_178443.3:c.1795C>G NP_848537.1:p.Gln599Glu