Canonical Allele Identifier: CA10571329
Gene: RPS4Y1 HGNC NCBI

Linked Data

dbSNP Id: rs753783573
gnomAD v2: Y-2734917-C-G
gnomAD v3: Y-2866876-C-G
gnomAD v4: Y-2866876-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2866876C>G , CM000686.2:g.2866876C>G GRCh38
NC_000024.9:g.2734917C>G , CM000686.1:g.2734917C>G GRCh37
NC_000024.8:g.2794917C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000250784.13:c.774C>G MANE Select ENSP00000250784.7:p.Thr258=
ENST00000250784.12:c.774C>G ENSP00000250784.7:p.Thr258=
ENST00000477725.1:n.918C>G
ENST00000515575.1:n.42+12105C>G
NM_001008.3:c.774C>G NP_000999.1:p.Thr258=
NM_001008.4:c.774C>G MANE Select NP_000999.1:p.Thr258=