Canonical Allele Identifier: CA337491763
Gene: EIF1AY HGNC NCBI
dbSNP:
9341317
gnomAD v3:
Y:20583059 T / C
gnomAD v4:
chrY-20583059-T-C
Joint Max Group AF 0.02713668 (AFR)
Genomes Max Group AF 0.02713668 (AFR)
MyVariant.info:
GRCh38 chrY:g.20583059T>C
GRCh37 chrY:g.22744945T>C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.20583059T>C , CM000686.2:g.20583059T>C GRCh38
NC_000024.9:g.22744945T>C , CM000686.1:g.22744945T>C GRCh37
NC_000024.8:g.21154333T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000361365.7:c.204+366T>C MANE Select ENSP00000354722.2:n.204+366T>C
ENST00000361365.6:c.204+366T>C ENSP00000354722.2:n.204+366T>C
ENST00000382772.3:c.204+366T>C ENSP00000372222.3:n.204+366T>C
ENST00000465253.1:n.298+366T>C
NM_001278612.1:c.204+366T>C NP_001265541.1:n.204+366T>C
NM_004681.3:c.204+366T>C NP_004672.2:n.204+366T>C
NM_004681.4:c.204+366T>C MANE Select NP_004672.2:n.204+366T>C
NM_001278612.2:c.204+366T>C NP_001265541.1:n.204+366T>C
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