Canonical Allele Identifier: CA2327699
Gene: RPSA HGNC NCBI

Linked Data

dbSNP Id: rs369941023
gnomAD v2: 3-39450040-G-C
gnomAD v3: 3-39408549-G-C
gnomAD v4: 3-39408549-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.39408549G>C , CM000665.2:g.39408549G>C GRCh38
NC_000003.11:g.39450040G>C , CM000665.1:g.39450040G>C GRCh37
NC_000003.10:g.39425044G>C NCBI36
NG_033234.1:g.6837G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000458478.6:c.134-57G>C ENSP00000410848.2:n.134-57G>C
ENST00000478027.3:n.627G>C
ENST00000697728.1:c.134-57G>C ENSP00000513422.1:n.134-57G>C
ENST00000697729.1:c.134-57G>C ENSP00000513423.1:n.134-57G>C
ENST00000697730.1:c.134-57G>C ENSP00000513424.1:n.134-57G>C
ENST00000697731.1:c.134-57G>C ENSP00000513425.1:n.134-57G>C
ENST00000697732.1:n.122-57G>C
ENST00000697753.1:c.134-57G>C ENSP00000513432.1:n.134-57G>C
ENST00000697816.1:c.*31-57G>C ENSP00000513451.1:n.*31-57G>C
ENST00000301821.11:c.134-57G>C MANE Select ENSP00000346067.4:n.134-57G>C
ENST00000301821.10:c.134-57G>C ENSP00000346067.4:n.134-57G>C
ENST00000443003.2:c.134-57G>C ENSP00000389351.1:n.134-57G>C
ENST00000444512.2:c.134-57G>C ENSP00000396716.2:n.134-57G>C
ENST00000458478.5:c.134-57G>C ENSP00000410848.1:n.134-57G>C
ENST00000477325.1:n.216-57G>C
ENST00000478027.2:n.346G>C
NM_001304288.1:c.134-57G>C NP_001291217.1:n.134-57G>C
NM_002295.5:c.134-57G>C NP_002286.2:n.134-57G>C
NM_002295.6:c.134-57G>C MANE Select NP_002286.2:n.134-57G>C
NM_001304288.2:c.134-57G>C NP_001291217.1:n.134-57G>C