Canonical Allele Identifier: CA337491767
Gene: EIF1AY HGNC NCBI

Linked Data

dbSNP Id: rs9341319
gnomAD v4: Y-20583235-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.20583235C>T , CM000686.2:g.20583235C>T GRCh38
NC_000024.9:g.22745121C>T , CM000686.1:g.22745121C>T GRCh37
NC_000024.8:g.21154509C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000361365.7:c.204+542C>T MANE Select ENSP00000354722.2:n.204+542C>T
ENST00000361365.6:c.204+542C>T ENSP00000354722.2:n.204+542C>T
ENST00000382772.3:c.204+542C>T ENSP00000372222.3:n.204+542C>T
ENST00000465253.1:n.298+542C>T
NM_001278612.1:c.204+542C>T NP_001265541.1:n.204+542C>T
NM_004681.3:c.204+542C>T NP_004672.2:n.204+542C>T
NM_004681.4:c.204+542C>T MANE Select NP_004672.2:n.204+542C>T
NM_001278612.2:c.204+542C>T NP_001265541.1:n.204+542C>T