Canonical Allele Identifier: CA337491875
Gene: EIF1AY HGNC NCBI

Linked Data

dbSNP Id: rs13447353
gnomAD v3: Y-20588288-C-T
gnomAD v4: Y-20588288-C-T
MyVariant Identifiers: chrY:g.22750174C>T (hg19) chrY:g.20588288C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.20588288C>T , CM000686.2:g.20588288C>T GRCh38
NC_000024.9:g.22750174C>T , CM000686.1:g.22750174C>T GRCh37
NC_000024.8:g.21159562C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000361365.7:c.337+183C>T MANE Select ENSP00000354722.2:n.337+183C>T
ENST00000361365.6:c.337+183C>T ENSP00000354722.2:n.337+183C>T
ENST00000382772.3:c.286+183C>T ENSP00000372222.3:n.286+183C>T
ENST00000464196.5:n.1571C>T
ENST00000465253.1:n.614C>T
ENST00000485584.1:n.259+183C>T
NM_001278612.1:c.286+183C>T NP_001265541.1:n.286+183C>T
NM_004681.3:c.337+183C>T NP_004672.2:n.337+183C>T
NM_004681.4:c.337+183C>T MANE Select NP_004672.2:n.337+183C>T
NM_001278612.2:c.286+183C>T NP_001265541.1:n.286+183C>T
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