Canonical Allele Identifier: CA2766255215
Gene: EIF1AY HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.20579714T>C , CM000686.2:g.20579714T>C GRCh38
NC_000024.9:g.22741600T>C , CM000686.1:g.22741600T>C GRCh37
NC_000024.8:g.21150988T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000361365.7:c.100+23T>C MANE Select ENSP00000354722.2:n.100+23T>C
ENST00000361365.6:c.100+23T>C ENSP00000354722.2:n.100+23T>C
ENST00000382772.3:c.100+23T>C ENSP00000372222.3:n.100+23T>C
ENST00000465253.1:n.194+23T>C
NM_001278612.1:c.100+23T>C NP_001265541.1:n.100+23T>C
NM_004681.3:c.100+23T>C NP_004672.2:n.100+23T>C
NM_004681.4:c.100+23T>C MANE Select NP_004672.2:n.100+23T>C
NM_001278612.2:c.100+23T>C NP_001265541.1:n.100+23T>C