Canonical Allele Identifier: CA337491831
Gene: EIF1AY HGNC NCBI
gnomAD v4:

Genomic Alleles

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

Transcript Alleles

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