Canonical Allele Identifier: CA923824781
Gene: EIF1AY HGNC NCBI

Linked Data

gnomAD v3: Y-20589045-C-G
gnomAD v4: Y-20589045-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.20589045C>G , CM000686.2:g.20589045C>G GRCh38
NC_000024.9:g.22750931C>G , CM000686.1:g.22750931C>G GRCh37
NC_000024.8:g.21160319C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000361365.7:c.338-439C>G MANE Select ENSP00000354722.2:n.338-439C>G
ENST00000361365.6:c.338-439C>G ENSP00000354722.2:n.338-439C>G
ENST00000382772.3:c.287-439C>G ENSP00000372222.3:n.287-439C>G
ENST00000464196.5:n.2328C>G
ENST00000485584.1:n.260-439C>G
NM_001278612.1:c.287-439C>G NP_001265541.1:n.287-439C>G
NM_004681.3:c.338-439C>G NP_004672.2:n.338-439C>G
NM_004681.4:c.338-439C>G MANE Select NP_004672.2:n.338-439C>G
NM_001278612.2:c.287-439C>G NP_001265541.1:n.287-439C>G