Canonical Allele Identifier: CA509460395
Gene: FERMT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.6077654A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6097007A>G , CM000682.2:g.6097007A>G GRCh38
NC_000020.10:g.6077654A>G , CM000682.1:g.6077654A>G GRCh37
NC_000020.9:g.6025654A>G NCBI36
NG_016213.1:g.31538T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000699095.1:c.984T>C ENSP00000514127.1:p.Ser328=
ENST00000699096.1:n.1446T>C
ENST00000699097.1:n.154T>C
ENST00000217289.9:c.984T>C MANE Select ENSP00000217289.4:p.Ser328=
ENST00000217289.8:c.984T>C ENSP00000217289.4:p.Ser328=
ENST00000536936.1:c.213T>C ENSP00000441063.1:p.Ser71=
NM_017671.4:c.984T>C NP_060141.3:p.Ser328=
XM_024451935.1:c.984T>C XP_024307703.1:p.Ser328=
NM_017671.5:c.984T>C MANE Select NP_060141.3:p.Ser328=