Canonical Allele Identifier: CA343059202
Gene: FCER1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.159304104T>C , CM000663.2:g.159304104T>C GRCh38
NC_000001.10:g.159273894T>C , CM000663.1:g.159273894T>C GRCh37
NC_000001.9:g.157540518T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000693622.1:c.253T>C MANE Select ENSP00000509626.1:p.Phe85Leu
ENST00000368114.1:c.154T>C ENSP00000357096.1:p.Phe52Leu
ENST00000368115.5:c.253T>C ENSP00000357097.1:p.Phe85Leu
NM_002001.3:c.253T>C NP_001992.1:p.Phe85Leu
NM_001387280.1:c.253T>C MANE Select NP_001374209.1:p.Phe85Leu
NM_001387281.1:c.76+1230T>C NP_001374210.1:n.76+1230T>C
NM_001387282.1:c.154T>C NP_001374211.1:p.Phe52Leu
NM_002001.4:c.253T>C NP_001992.1:p.Phe85Leu