Canonical Allele Identifier: CA2651854072
Gene: FERMT1 HGNC NCBI

Linked Data

gnomAD v4: 20-6107508-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6107508G>T , CM000682.2:g.6107508G>T GRCh38
NC_000020.10:g.6088155G>T , CM000682.1:g.6088155G>T GRCh37
NC_000020.9:g.6036155G>T NCBI36
NG_016213.1:g.21037C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000699095.1:c.849+24C>A ENSP00000514127.1:n.849+24C>A
ENST00000699096.1:n.1311+24C>A
ENST00000699097.1:n.19+24C>A
ENST00000699098.1:c.873C>A ENSP00000514312.1:p.Val291=
ENST00000217289.9:c.849+24C>A MANE Select ENSP00000217289.4:n.849+24C>A
ENST00000217289.8:c.849+24C>A ENSP00000217289.4:n.849+24C>A
ENST00000536936.1:c.78+24C>A ENSP00000441063.1:n.78+24C>A
NM_017671.4:c.849+24C>A NP_060141.3:n.849+24C>A
XM_024451935.1:c.849+24C>A XP_024307703.1:n.849+24C>A
NM_017671.5:c.849+24C>A MANE Select NP_060141.3:n.849+24C>A
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