Canonical Allele Identifier: CA2347802142
Community Standard Title: NM_017671.5(FERMT1):c.889A= (p.Arg297=)
Gene: FERMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6097592T= , CM000682.2:g.6097592T= GRCh38
NC_000020.10:g.6078239T= , CM000682.1:g.6078239T= GRCh37
NC_000020.9:g.6026239T= NCBI36
NG_016213.1:g.30953A=

Transcript Alleles

HGVS Amino-acid Change
NM_017671.5:c.889A= MANE Select NP_060141.3:p.Arg297=
ENST00000217289.9:c.889A= MANE Select ENSP00000217289.4:p.Arg297=
NM_017671.4:c.889A= NP_060141.3:p.Arg297=
ENST00000217289.8:c.889A= ENSP00000217289.4:p.Arg297=
ENST00000536936.1:c.118A= ENSP00000441063.1:p.Arg40=
ENST00000699095.1:c.889A= ENSP00000514127.1:p.Arg297=
ENST00000699096.1:n.1351A=
ENST00000699097.1:n.59A=
XM_024451935.1:c.889A= XP_024307703.1:p.Arg297=