Canonical Allele Identifier: CA923822172
Gene: EIF1AY HGNC NCBI

Linked Data

gnomAD v3: Y-20583446-A-C
gnomAD v4: Y-20583446-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.20583446A>C , CM000686.2:g.20583446A>C GRCh38
NC_000024.9:g.22745332A>C , CM000686.1:g.22745332A>C GRCh37
NC_000024.8:g.21154720A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000361365.7:c.204+753A>C MANE Select ENSP00000354722.2:n.204+753A>C
ENST00000361365.6:c.204+753A>C ENSP00000354722.2:n.204+753A>C
ENST00000382772.3:c.204+753A>C ENSP00000372222.3:n.204+753A>C
ENST00000465253.1:n.298+753A>C
NM_001278612.1:c.204+753A>C NP_001265541.1:n.204+753A>C
NM_004681.3:c.204+753A>C NP_004672.2:n.204+753A>C
NM_004681.4:c.204+753A>C MANE Select NP_004672.2:n.204+753A>C
NM_001278612.2:c.204+753A>C NP_001265541.1:n.204+753A>C
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