Canonical Allele Identifier: CA2577334001

Gene: FERMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.6107504G>C , CM000682.2:g.6107504G>C	GRCh38
NC_000020.10:g.6088151G>C , CM000682.1:g.6088151G>C	GRCh37
NC_000020.9:g.6036151G>C	NCBI36
NG_016213.1:g.21041C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000699095.1:c.849+28C>G	ENSP00000514127.1:n.849+28C>G
ENST00000699096.1:n.1311+28C>G
ENST00000699097.1:n.19+28C>G
ENST00000699098.1:c.877C>G	ENSP00000514312.1:p.Leu293Val
ENST00000217289.9:c.849+28C>G MANE Select	ENSP00000217289.4:n.849+28C>G
ENST00000217289.8:c.849+28C>G	ENSP00000217289.4:n.849+28C>G
ENST00000536936.1:c.78+28C>G	ENSP00000441063.1:n.78+28C>G
NM_017671.4:c.849+28C>G	NP_060141.3:n.849+28C>G
XM_024451935.1:c.849+28C>G	XP_024307703.1:n.849+28C>G
NM_017671.5:c.849+28C>G MANE Select	NP_060141.3:n.849+28C>G