Canonical Allele Identifier: CA408182129
Gene: FERMT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.6077549C>G (hg19) chr20:g.6096902C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6096902C>G , CM000682.2:g.6096902C>G GRCh38
NC_000020.10:g.6077549C>G , CM000682.1:g.6077549C>G GRCh37
NC_000020.9:g.6025549C>G NCBI36
NG_016213.1:g.31643G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000699095.1:c.1089G>C ENSP00000514127.1:p.Leu363Phe
ENST00000699096.1:n.1551G>C
ENST00000699097.1:n.259G>C
ENST00000217289.9:c.1089G>C MANE Select ENSP00000217289.4:p.Leu363Phe
ENST00000217289.8:c.1089G>C ENSP00000217289.4:p.Leu363Phe
ENST00000536936.1:c.318G>C ENSP00000441063.1:p.Leu106Phe
NM_017671.4:c.1089G>C NP_060141.3:p.Leu363Phe
XM_024451935.1:c.1089G>C XP_024307703.1:p.Leu363Phe
NM_017671.5:c.1089G>C MANE Select NP_060141.3:p.Leu363Phe
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