Canonical Allele Identifier: CA10575118
Gene: EIF1AY HGNC NCBI

Linked Data

dbSNP Id: rs746455327
ExAC: Y:22741617 T / G
gnomAD v2: Y-22741617-T-G
MyVariant Identifiers: chrY:g.22741617T>G (hg19) chrY:g.20579731T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.20579731T>G , CM000686.2:g.20579731T>G GRCh38
NC_000024.9:g.22741617T>G , CM000686.1:g.22741617T>G GRCh37
NC_000024.8:g.21151005T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000361365.7:c.100+40T>G MANE Select ENSP00000354722.2:n.100+40T>G
ENST00000361365.6:c.100+40T>G ENSP00000354722.2:n.100+40T>G
ENST00000382772.3:c.100+40T>G ENSP00000372222.3:n.100+40T>G
ENST00000465253.1:n.194+40T>G
NM_001278612.1:c.100+40T>G NP_001265541.1:n.100+40T>G
NM_004681.3:c.100+40T>G NP_004672.2:n.100+40T>G
NM_004681.4:c.100+40T>G MANE Select NP_004672.2:n.100+40T>G
NM_001278612.2:c.100+40T>G NP_001265541.1:n.100+40T>G
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