Canonical Allele Identifier: CA2589255831
Gene: RPS4Y1 HGNC NCBI

Linked Data

gnomAD v3: Y-2867019-C-T
gnomAD v4: Y-2867019-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2867019C>T , CM000686.2:g.2867019C>T GRCh38
NC_000024.9:g.2735060C>T , CM000686.1:g.2735060C>T GRCh37
NC_000024.8:g.2795060C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000250784.13:c.*125C>T MANE Select ENSP00000250784.7:n.*125C>T
ENST00000250784.12:c.*125C>T ENSP00000250784.7:n.*125C>T
ENST00000515575.1:n.42+12248C>T
NM_001008.4:c.*125C>T MANE Select NP_000999.1:n.*125C>T