Canonical Allele Identifier: CA923824885
Gene: EIF1AY HGNC NCBI

Linked Data

gnomAD v3: Y-20589166-C-T
gnomAD v4: Y-20589166-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.20589166C>T , CM000686.2:g.20589166C>T GRCh38
NC_000024.9:g.22751052C>T , CM000686.1:g.22751052C>T GRCh37
NC_000024.8:g.21160440C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000361365.7:c.338-318C>T MANE Select ENSP00000354722.2:n.338-318C>T
ENST00000361365.6:c.338-318C>T ENSP00000354722.2:n.338-318C>T
ENST00000382772.3:c.287-318C>T ENSP00000372222.3:n.287-318C>T
ENST00000464196.5:n.2449C>T
ENST00000485584.1:n.260-318C>T
NM_001278612.1:c.287-318C>T NP_001265541.1:n.287-318C>T
NM_004681.3:c.338-318C>T NP_004672.2:n.338-318C>T
NM_004681.4:c.338-318C>T MANE Select NP_004672.2:n.338-318C>T
NM_001278612.2:c.287-318C>T NP_001265541.1:n.287-318C>T
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