Canonical Allele Identifier: CA337491883
Gene: EIF1AY HGNC NCBI
MyVariant.info:
GRCh38 chrY:g.20588697A>C
GRCh37 chrY:g.22750583A>C
gnomAD v3:
Y:20588697 A / C
gnomAD v4:
chrY-20588697-A-C
Joint Max Group AF 0.95011314 (EAS)
Genomes Max Group AF 0.95011314 (EAS)
Exomes Max Group AF 0.05922656 (NFE)
dbSNP:
1558843
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.20588697A>C , CM000686.2:g.20588697A>C GRCh38
NC_000024.9:g.22750583A>C , CM000686.1:g.22750583A>C GRCh37
NC_000024.8:g.21159971A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000361365.7:c.337+592A>C MANE Select ENSP00000354722.2:n.337+592A>C
ENST00000361365.6:c.337+592A>C ENSP00000354722.2:n.337+592A>C
ENST00000382772.3:c.286+592A>C ENSP00000372222.3:n.286+592A>C
ENST00000464196.5:n.1980A>C
ENST00000485584.1:n.259+592A>C
NM_001278612.1:c.286+592A>C NP_001265541.1:n.286+592A>C
NM_004681.3:c.337+592A>C NP_004672.2:n.337+592A>C
NM_004681.4:c.337+592A>C MANE Select NP_004672.2:n.337+592A>C
NM_001278612.2:c.286+592A>C NP_001265541.1:n.286+592A>C
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