Canonical Allele Identifier: CA923822073
Gene: EIF1AY HGNC NCBI

Linked Data

gnomAD v3: Y-20583330-G-A
gnomAD v4: Y-20583330-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.20583330G>A , CM000686.2:g.20583330G>A GRCh38
NC_000024.9:g.22745216G>A , CM000686.1:g.22745216G>A GRCh37
NC_000024.8:g.21154604G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000361365.7:c.204+637G>A MANE Select ENSP00000354722.2:n.204+637G>A
ENST00000361365.6:c.204+637G>A ENSP00000354722.2:n.204+637G>A
ENST00000382772.3:c.204+637G>A ENSP00000372222.3:n.204+637G>A
ENST00000465253.1:n.298+637G>A
NM_001278612.1:c.204+637G>A NP_001265541.1:n.204+637G>A
NM_004681.3:c.204+637G>A NP_004672.2:n.204+637G>A
NM_004681.4:c.204+637G>A MANE Select NP_004672.2:n.204+637G>A
NM_001278612.2:c.204+637G>A NP_001265541.1:n.204+637G>A