Canonical Allele Identifier: CA923824700
Gene: EIF1AY HGNC NCBI

Linked Data

dbSNP Id: rs2089356765
gnomAD v3: Y-20588956-T-C
gnomAD v4: Y-20588956-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.20588956T>C , CM000686.2:g.20588956T>C GRCh38
NC_000024.9:g.22750842T>C , CM000686.1:g.22750842T>C GRCh37
NC_000024.8:g.21160230T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000361365.7:c.338-528T>C MANE Select ENSP00000354722.2:n.338-528T>C
ENST00000361365.6:c.338-528T>C ENSP00000354722.2:n.338-528T>C
ENST00000382772.3:c.287-528T>C ENSP00000372222.3:n.287-528T>C
ENST00000464196.5:n.2239T>C
ENST00000485584.1:n.260-528T>C
NM_001278612.1:c.287-528T>C NP_001265541.1:n.287-528T>C
NM_004681.3:c.338-528T>C NP_004672.2:n.338-528T>C
NM_004681.4:c.338-528T>C MANE Select NP_004672.2:n.338-528T>C
NM_001278612.2:c.287-528T>C NP_001265541.1:n.287-528T>C
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