Canonical Allele Identifier: CA9155123
Gene: RPS28 HGNC NCBI
ELAVL1 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.8321536C>T
GRCh37 chr19:g.8386420C>T
gnomAD v2:
19:8386420 C / T
gnomAD v3:
19:8321536 C / T
gnomAD v4:
chr19-8321536-C-T
Joint Max Group AF 0.00013209 (SAS)
Genomes Max Group AF 0.00014842 (AFR)
Exomes Max Group AF 0.00014056 (SAS)
ClinVar RCV:
RCV002938410
ClinVar Variation:
2056150
dbSNP:
534143211
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.8321536C>T , CM000681.2:g.8321536C>T GRCh38
NC_000019.9:g.8386420C>T , CM000681.1:g.8386420C>T GRCh37
NC_000019.8:g.8292420C>T NCBI36
NG_028213.1:g.4861G>A
NG_028213.2:g.4861G>A
NG_050637.1:g.5037C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000600659.3:c.6C>T (RPS28) MANE Select ENSP00000472469.1:p.Asp2=
ENST00000351593.9:c.-87-59532G>A (ELAVL1) ENSP00000264073.6:n.-87-59532G>A
ENST00000449223.3:n.379C>T (RPS28)
ENST00000600659.2:c.6C>T (RPS28) ENSP00000472469.1:p.Asp2=
ENST00000602140.1:n.42C>T (RPS28)
NM_001031.4:c.6C>T (RPS28) NP_001022.1:p.Asp2=
NM_001031.5:c.6C>T (RPS28) MANE Select NP_001022.1:p.Asp2=
Search 100 bp 5'
Search 100 bp 3'