Canonical Allele Identifier: CA1138674204
Gene: RPS4Y1 HGNC NCBI

Linked Data

dbSNP Id: rs2051168111
gnomAD v3: Y-2867001-T-C
gnomAD v4: Y-2867001-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2867001T>C , CM000686.2:g.2867001T>C GRCh38
NC_000024.9:g.2735042T>C , CM000686.1:g.2735042T>C GRCh37
NC_000024.8:g.2795042T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000250784.13:c.*107T>C MANE Select ENSP00000250784.7:n.*107T>C
ENST00000250784.12:c.*107T>C ENSP00000250784.7:n.*107T>C
ENST00000515575.1:n.42+12230T>C
NM_001008.4:c.*107T>C MANE Select NP_000999.1:n.*107T>C