Canonical Allele Identifier: CA923824775
Gene: EIF1AY HGNC NCBI

Linked Data

dbSNP Id: rs2089356797
gnomAD v3: Y-20589029-A-G
gnomAD v4: Y-20589029-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.20589029A>G , CM000686.2:g.20589029A>G GRCh38
NC_000024.9:g.22750915A>G , CM000686.1:g.22750915A>G GRCh37
NC_000024.8:g.21160303A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000361365.7:c.338-455A>G MANE Select ENSP00000354722.2:n.338-455A>G
ENST00000361365.6:c.338-455A>G ENSP00000354722.2:n.338-455A>G
ENST00000382772.3:c.287-455A>G ENSP00000372222.3:n.287-455A>G
ENST00000464196.5:n.2312A>G
ENST00000485584.1:n.260-455A>G
NM_001278612.1:c.287-455A>G NP_001265541.1:n.287-455A>G
NM_004681.3:c.338-455A>G NP_004672.2:n.338-455A>G
NM_004681.4:c.338-455A>G MANE Select NP_004672.2:n.338-455A>G
NM_001278612.2:c.287-455A>G NP_001265541.1:n.287-455A>G