Canonical Allele Identifier: CA414947423
Gene: RPS4Y1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2866838C>A , CM000686.2:g.2866838C>A GRCh38
NC_000024.9:g.2734879C>A , CM000686.1:g.2734879C>A GRCh37
NC_000024.8:g.2794879C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000250784.13:c.736C>A MANE Select ENSP00000250784.7:p.Leu246Ile
ENST00000250784.12:c.736C>A ENSP00000250784.7:p.Leu246Ile
ENST00000430575.1:c.763C>A ENSP00000415317.1:p.Leu255Ile
ENST00000477725.1:n.880C>A
ENST00000515575.1:n.42+12067C>A
NM_001008.3:c.736C>A NP_000999.1:p.Leu246Ile
NM_001008.4:c.736C>A MANE Select NP_000999.1:p.Leu246Ile