Canonical Allele Identifier: CA408182117
Gene: FERMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.6096900A>G , CM000682.2:g.6096900A>G GRCh38
NC_000020.10:g.6077547A>G , CM000682.1:g.6077547A>G GRCh37
NC_000020.9:g.6025547A>G NCBI36
NG_016213.1:g.31645T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000699095.1:c.1089+2T>C ENSP00000514127.1:n.1089+2T>C
ENST00000699096.1:n.1551+2T>C
ENST00000699097.1:n.261T>C
ENST00000217289.9:c.1089+2T>C MANE Select ENSP00000217289.4:n.1089+2T>C
ENST00000217289.8:c.1089+2T>C ENSP00000217289.4:n.1089+2T>C
ENST00000536936.1:c.318+2T>C ENSP00000441063.1:n.318+2T>C
NM_017671.4:c.1089+2T>C NP_060141.3:n.1089+2T>C
XM_024451935.1:c.1089+2T>C XP_024307703.1:n.1089+2T>C
NM_017671.5:c.1089+2T>C MANE Select NP_060141.3:n.1089+2T>C