Canonical Allele Identifier: CA2347806404
Gene: FERMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6107502G= , CM000682.2:g.6107502G= GRCh38
NC_000020.10:g.6088149G= , CM000682.1:g.6088149G= GRCh37
NC_000020.9:g.6036149G= NCBI36
NG_016213.1:g.21043C=

Transcript Alleles

HGVS Amino-acid change
ENST00000699095.1:c.849+30C= ENSP00000514127.1:n.849+30C=
ENST00000699096.1:n.1311+30C=
ENST00000699097.1:n.19+30C=
ENST00000699098.1:c.879C= ENSP00000514312.1:p.Leu293=
ENST00000217289.9:c.849+30C= MANE Select ENSP00000217289.4:n.849+30C=
ENST00000217289.8:c.849+30C= ENSP00000217289.4:n.849+30C=
ENST00000536936.1:c.78+30C= ENSP00000441063.1:n.78+30C=
NM_017671.4:c.849+30C= NP_060141.3:n.849+30C=
XM_024451935.1:c.849+30C= XP_024307703.1:n.849+30C=
NM_017671.5:c.849+30C= MANE Select NP_060141.3:n.849+30C=