Canonical Allele Identifier: CA923820337
Gene: EIF1AY HGNC NCBI

Linked Data

gnomAD v3: Y-20579893-G-C
gnomAD v4: Y-20579893-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.20579893G>C , CM000686.2:g.20579893G>C GRCh38
NC_000024.9:g.22741779G>C , CM000686.1:g.22741779G>C GRCh37
NC_000024.8:g.21151167G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000361365.7:c.100+202G>C MANE Select ENSP00000354722.2:n.100+202G>C
ENST00000361365.6:c.100+202G>C ENSP00000354722.2:n.100+202G>C
ENST00000382772.3:c.100+202G>C ENSP00000372222.3:n.100+202G>C
ENST00000465253.1:n.194+202G>C
NM_001278612.1:c.100+202G>C NP_001265541.1:n.100+202G>C
NM_004681.3:c.100+202G>C NP_004672.2:n.100+202G>C
NM_004681.4:c.100+202G>C MANE Select NP_004672.2:n.100+202G>C
NM_001278612.2:c.100+202G>C NP_001265541.1:n.100+202G>C
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