Canonical Allele Identifier: CA408192086

Gene: FERMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.6115855G>C , CM000682.2:g.6115855G>C	GRCh38
NC_000020.10:g.6096502G>C , CM000682.1:g.6096502G>C	GRCh37
NC_000020.9:g.6044502G>C	NCBI36
NG_016213.1:g.12690C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_017671.5:c.341C>G MANE Select	NP_060141.3:p.Ser114Ter
ENST00000217289.9:c.341C>G MANE Select	ENSP00000217289.4:p.Ser114Ter
NM_017671.4:c.341C>G	NP_060141.3:p.Ser114Ter
ENST00000217289.8:c.341C>G	ENSP00000217289.4:p.Ser114Ter
ENST00000378844.1:c.341C>G	ENSP00000368121.1:p.Ser114Ter
ENST00000536936.1:c.-217C>G	ENSP00000441063.1:n.-217C>G
ENST00000699095.1:c.341C>G	ENSP00000514127.1:p.Ser114Ter
ENST00000699096.1:n.803C>G
ENST00000699098.1:c.341C>G	ENSP00000514312.1:p.Ser114Ter
XM_024451935.1:c.341C>G	XP_024307703.1:p.Ser114Ter