Canonical Allele Identifier: CA509460001
Gene: FERMT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.6077552A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6096905A>G , CM000682.2:g.6096905A>G GRCh38
NC_000020.10:g.6077552A>G , CM000682.1:g.6077552A>G GRCh37
NC_000020.9:g.6025552A>G NCBI36
NG_016213.1:g.31640T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000699095.1:c.1086T>C ENSP00000514127.1:p.Leu362=
ENST00000699096.1:n.1548T>C
ENST00000699097.1:n.256T>C
ENST00000217289.9:c.1086T>C MANE Select ENSP00000217289.4:p.Leu362=
ENST00000217289.8:c.1086T>C ENSP00000217289.4:p.Leu362=
ENST00000536936.1:c.315T>C ENSP00000441063.1:p.Leu105=
NM_017671.4:c.1086T>C NP_060141.3:p.Leu362=
XM_024451935.1:c.1086T>C XP_024307703.1:p.Leu362=
NM_017671.5:c.1086T>C MANE Select NP_060141.3:p.Leu362=
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