Canonical Allele Identifier: CA923820442
Gene: EIF1AY HGNC NCBI

Linked Data

gnomAD v3: Y-20580028-G-T
gnomAD v4: Y-20580028-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.20580028G>T , CM000686.2:g.20580028G>T GRCh38
NC_000024.9:g.22741914G>T , CM000686.1:g.22741914G>T GRCh37
NC_000024.8:g.21151302G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000361365.7:c.100+337G>T MANE Select ENSP00000354722.2:n.100+337G>T
ENST00000361365.6:c.100+337G>T ENSP00000354722.2:n.100+337G>T
ENST00000382772.3:c.100+337G>T ENSP00000372222.3:n.100+337G>T
ENST00000465253.1:n.194+337G>T
NM_001278612.1:c.100+337G>T NP_001265541.1:n.100+337G>T
NM_004681.3:c.100+337G>T NP_004672.2:n.100+337G>T
NM_004681.4:c.100+337G>T MANE Select NP_004672.2:n.100+337G>T
NM_001278612.2:c.100+337G>T NP_001265541.1:n.100+337G>T
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