Canonical Allele Identifier: CA3237955595
Community Standard Title: NM_017671.5(FERMT1):c.373T= (p.Cys125=)
Gene: FERMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6115823A= , CM000682.2:g.6115823A= GRCh38
NC_000020.10:g.6096470A= , CM000682.1:g.6096470A= GRCh37
NC_000020.9:g.6044470A= NCBI36
NG_016213.1:g.12722T=

Transcript Alleles

HGVS Amino-acid Change
NM_017671.5:c.373T= MANE Select NP_060141.3:p.Cys125=
ENST00000217289.9:c.373T= MANE Select ENSP00000217289.4:p.Cys125=
NM_017671.4:c.373T= NP_060141.3:p.Cys125=
ENST00000217289.8:c.373T= ENSP00000217289.4:p.Cys125=
ENST00000378844.1:c.373T= ENSP00000368121.1:p.Cys125=
ENST00000536936.1:c.-185T= ENSP00000441063.1:n.-185T=
ENST00000699095.1:c.373T= ENSP00000514127.1:p.Cys125=
ENST00000699096.1:n.835T=
ENST00000699098.1:c.373T= ENSP00000514312.1:p.Cys125=
XM_024451935.1:c.373T= XP_024307703.1:p.Cys125=