Canonical Allele Identifier: CA408176170
Gene: FERMT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.6060097A>G (hg19) chr20:g.6079450A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6079450A>G , CM000682.2:g.6079450A>G GRCh38
NC_000020.10:g.6060097A>G , CM000682.1:g.6060097A>G GRCh37
NC_000020.9:g.6008097A>G NCBI36
NG_016213.1:g.49095T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000699095.1:c.1846T>C ENSP00000514127.1:p.Trp616Arg
ENST00000217289.9:c.1846T>C MANE Select ENSP00000217289.4:p.Trp616Arg
ENST00000217289.8:c.1846T>C ENSP00000217289.4:p.Trp616Arg
ENST00000478194.1:n.806T>C
ENST00000536936.1:c.1075T>C ENSP00000441063.1:p.Trp359Arg
NM_017671.4:c.1846T>C NP_060141.3:p.Trp616Arg
XM_024451935.1:c.1846T>C XP_024307703.1:p.Trp616Arg
NM_017671.5:c.1846T>C MANE Select NP_060141.3:p.Trp616Arg
Search 100 bp 5'
Search 100 bp 3'