Canonical Allele Identifier: CA9758430

Gene: FERMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.6110525G>A , CM000682.2:g.6110525G>A	GRCh38
NC_000020.10:g.6091172G>A , CM000682.1:g.6091172G>A	GRCh37
NC_000020.9:g.6039172G>A	NCBI36
NG_016213.1:g.18020C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_017671.5:c.533-14C>T MANE Select	NP_060141.3:n.533-14C>T
ENST00000217289.9:c.533-14C>T MANE Select	ENSP00000217289.4:n.533-14C>T
NM_017671.4:c.533-14C>T	NP_060141.3:n.533-14C>T
ENST00000217289.8:c.533-14C>T	ENSP00000217289.4:n.533-14C>T
ENST00000536936.1:c.-26+1952C>T	ENSP00000441063.1:n.-26+1952C>T
ENST00000699095.1:c.533-14C>T	ENSP00000514127.1:n.533-14C>T
ENST00000699096.1:n.995-14C>T
ENST00000699098.1:c.533-14C>T	ENSP00000514312.1:n.533-14C>T
XM_024451935.1:c.533-14C>T	XP_024307703.1:n.533-14C>T