Canonical Allele Identifier: CA414947446
Gene: RPS4Y1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2866845T>A , CM000686.2:g.2866845T>A GRCh38
NC_000024.9:g.2734886T>A , CM000686.1:g.2734886T>A GRCh37
NC_000024.8:g.2794886T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000250784.13:c.743T>A MANE Select ENSP00000250784.7:p.Val248Asp
ENST00000250784.12:c.743T>A ENSP00000250784.7:p.Val248Asp
ENST00000430575.1:c.770T>A ENSP00000415317.1:p.Val257Asp
ENST00000477725.1:n.887T>A
ENST00000515575.1:n.42+12074T>A
NM_001008.3:c.743T>A NP_000999.1:p.Val248Asp
NM_001008.4:c.743T>A MANE Select NP_000999.1:p.Val248Asp