Canonical Allele Identifier: CA15972125

Gene: FERMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.6119744G>A , CM000682.2:g.6119744G>A	GRCh38
NC_000020.10:g.6100391G>A , CM000682.1:g.6100391G>A	GRCh37
NC_000020.9:g.6048391G>A	NCBI36
NG_016213.1:g.8801C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_017671.5:c.-18-172C>T MANE Select	NP_060141.3:n.-18-172C>T
ENST00000217289.9:c.-18-172C>T MANE Select	ENSP00000217289.4:n.-18-172C>T
NM_017671.4:c.-18-172C>T	NP_060141.3:n.-18-172C>T
ENST00000217289.8:c.-18-172C>T	ENSP00000217289.4:n.-18-172C>T
ENST00000378844.1:c.-18-172C>T	ENSP00000368121.1:n.-18-172C>T
ENST00000536936.1:c.-558-172C>T	ENSP00000441063.1:n.-558-172C>T
ENST00000699095.1:c.-190C>T	ENSP00000514127.1:n.-190C>T
ENST00000699096.1:n.442-169C>T
XM_024451935.1:c.-21-169C>T	XP_024307703.1:n.-21-169C>T