Canonical Allele Identifier: CA2824363300
Gene: RPS4Y1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2867142C>A , CM000686.2:g.2867142C>A GRCh38
NC_000024.9:g.2735183C>A , CM000686.1:g.2735183C>A GRCh37
NC_000024.8:g.2795183C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000250784.13:c.*248C>A MANE Select ENSP00000250784.7:n.*248C>A
ENST00000250784.12:c.*248C>A ENSP00000250784.7:n.*248C>A
ENST00000515575.1:n.42+12371C>A
NM_001008.4:c.*248C>A MANE Select NP_000999.1:n.*248C>A
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