Canonical Allele Identifier: CA337491807
Gene: EIF1AY HGNC NCBI

Linked Data

dbSNP Id: rs17323322
gnomAD v3: Y-20584900-T-C
gnomAD v4: Y-20584900-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.20584900T>C , CM000686.2:g.20584900T>C GRCh38
NC_000024.9:g.22746786T>C , CM000686.1:g.22746786T>C GRCh37
NC_000024.8:g.21156174T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000361365.7:c.255+376T>C MANE Select ENSP00000354722.2:n.255+376T>C
ENST00000361365.6:c.255+376T>C ENSP00000354722.2:n.255+376T>C
ENST00000382772.3:c.204+2207T>C ENSP00000372222.3:n.204+2207T>C
ENST00000465253.1:n.349+376T>C
NM_001278612.1:c.204+2207T>C NP_001265541.1:n.204+2207T>C
NM_004681.3:c.255+376T>C NP_004672.2:n.255+376T>C
NM_004681.4:c.255+376T>C MANE Select NP_004672.2:n.255+376T>C
NM_001278612.2:c.204+2207T>C NP_001265541.1:n.204+2207T>C