Canonical Allele Identifier: CA337491830
Gene: EIF1AY HGNC NCBI
MyVariant.info:
GRCh38 chrY:g.20586620G>A
gnomAD v3:
Y:20586620 G / A
gnomAD v4:
chrY-20586620-G-A
Joint Max Group AF 0.00002549 (NFE)
Genomes Max Group AF 0.00002549 (NFE)
dbSNP:
13447347
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.20586620G>A , CM000686.2:g.20586620G>A GRCh38
NC_000024.9:g.22748506G>A , CM000686.1:g.22748506G>A GRCh37
NC_000024.8:g.21157894G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000361365.7:c.256-1404G>A MANE Select ENSP00000354722.2:n.256-1404G>A
ENST00000361365.6:c.256-1404G>A ENSP00000354722.2:n.256-1404G>A
ENST00000382772.3:c.205-1404G>A ENSP00000372222.3:n.205-1404G>A
ENST00000465253.1:n.350-1404G>A
NM_001278612.1:c.205-1404G>A NP_001265541.1:n.205-1404G>A
NM_004681.3:c.256-1404G>A NP_004672.2:n.256-1404G>A
NM_004681.4:c.256-1404G>A MANE Select NP_004672.2:n.256-1404G>A
NM_001278612.2:c.205-1404G>A NP_001265541.1:n.205-1404G>A
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