Canonical Allele Identifier: CA9758565
Community Standard Title: NM_017671.5(FERMT1):c.35G>A (p.Trp12Ter)
Gene: FERMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6119520C>T , CM000682.2:g.6119520C>T GRCh38
NC_000020.10:g.6100167C>T , CM000682.1:g.6100167C>T GRCh37
NC_000020.9:g.6048167C>T NCBI36
NG_016213.1:g.9025G>A

Transcript Alleles

HGVS Amino-acid Change
NM_017671.5:c.35G>A MANE Select NP_060141.3:p.Trp12Ter
ENST00000217289.9:c.35G>A MANE Select ENSP00000217289.4:p.Trp12Ter
NM_017671.4:c.35G>A NP_060141.3:p.Trp12Ter
ENST00000217289.8:c.35G>A ENSP00000217289.4:p.Trp12Ter
ENST00000378844.1:c.35G>A ENSP00000368121.1:p.Trp12Ter
ENST00000536936.1:c.-506G>A ENSP00000441063.1:n.-506G>A
ENST00000699095.1:c.35G>A ENSP00000514127.1:p.Trp12Ter
ENST00000699096.1:n.497G>A
ENST00000699098.1:c.35G>A ENSP00000514312.1:p.Trp12Ter
XM_024451935.1:c.35G>A XP_024307703.1:p.Trp12Ter