Canonical Allele Identifier: CA9758497

Gene: FERMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.6115904G>A , CM000682.2:g.6115904G>A	GRCh38
NC_000020.10:g.6096551G>A , CM000682.1:g.6096551G>A	GRCh37
NC_000020.9:g.6044551G>A	NCBI36
NG_016213.1:g.12641C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_017671.5:c.292C>T MANE Select	NP_060141.3:p.Arg98Cys
ENST00000217289.9:c.292C>T MANE Select	ENSP00000217289.4:p.Arg98Cys
NM_017671.4:c.292C>T	NP_060141.3:p.Arg98Cys
ENST00000217289.8:c.292C>T	ENSP00000217289.4:p.Arg98Cys
ENST00000378844.1:c.292C>T	ENSP00000368121.1:p.Arg98Cys
ENST00000536936.1:c.-266C>T	ENSP00000441063.1:n.-266C>T
ENST00000699095.1:c.292C>T	ENSP00000514127.1:p.Arg98Cys
ENST00000699096.1:n.754C>T
ENST00000699098.1:c.292C>T	ENSP00000514312.1:p.Arg98Cys
XM_024451935.1:c.292C>T	XP_024307703.1:p.Arg98Cys