Canonical Allele Identifier: CA337491906
Gene: EIF1AY HGNC NCBI

Linked Data

dbSNP Id: rs13447357
gnomAD v3: Y-20589977-C-T
gnomAD v4: Y-20589977-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.20589977C>T , CM000686.2:g.20589977C>T GRCh38
NC_000024.9:g.22751863C>T , CM000686.1:g.22751863C>T GRCh37
NC_000024.8:g.21161251C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000361365.7:c.429+402C>T MANE Select ENSP00000354722.2:n.429+402C>T
ENST00000361365.6:c.429+402C>T ENSP00000354722.2:n.429+402C>T
ENST00000382772.3:c.378+402C>T ENSP00000372222.3:n.378+402C>T
ENST00000464196.5:n.2858+402C>T
ENST00000485584.1:n.351+402C>T
NM_001278612.1:c.378+402C>T NP_001265541.1:n.378+402C>T
NM_004681.3:c.429+402C>T NP_004672.2:n.429+402C>T
NM_004681.4:c.429+402C>T MANE Select NP_004672.2:n.429+402C>T
NM_001278612.2:c.378+402C>T NP_001265541.1:n.378+402C>T