Canonical Allele Identifier: CA343058693
Gene: FCER1A HGNC NCBI

Linked Data

COSMIC: COSM378050

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.159304003G>T , CM000663.2:g.159304003G>T GRCh38
NC_000001.10:g.159273793G>T , CM000663.1:g.159273793G>T GRCh37
NC_000001.9:g.157540417G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000693622.1:c.152G>T MANE Select ENSP00000509626.1:p.Cys51Phe
ENST00000368114.1:c.77-24G>T ENSP00000357096.1:n.77-24G>T
ENST00000368115.5:c.152G>T ENSP00000357097.1:p.Cys51Phe
NM_002001.3:c.152G>T NP_001992.1:p.Cys51Phe
NM_001387280.1:c.152G>T MANE Select NP_001374209.1:p.Cys51Phe
NM_001387281.1:c.76+1129G>T NP_001374210.1:n.76+1129G>T
NM_001387282.1:c.77-24G>T NP_001374211.1:n.77-24G>T
NM_002001.4:c.152G>T NP_001992.1:p.Cys51Phe