Canonical Allele Identifier: CA2665166247
Gene: RPSA HGNC NCBI

Linked Data

gnomAD v4: 3-39408554-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.39408554G>T , CM000665.2:g.39408554G>T GRCh38
NC_000003.11:g.39450045G>T , CM000665.1:g.39450045G>T GRCh37
NC_000003.10:g.39425049G>T NCBI36
NG_033234.1:g.6842G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000458478.6:c.134-52G>T ENSP00000410848.2:n.134-52G>T
ENST00000478027.3:n.632G>T
ENST00000697728.1:c.134-52G>T ENSP00000513422.1:n.134-52G>T
ENST00000697729.1:c.134-52G>T ENSP00000513423.1:n.134-52G>T
ENST00000697730.1:c.134-52G>T ENSP00000513424.1:n.134-52G>T
ENST00000697731.1:c.134-52G>T ENSP00000513425.1:n.134-52G>T
ENST00000697732.1:n.122-52G>T
ENST00000697753.1:c.134-52G>T ENSP00000513432.1:n.134-52G>T
ENST00000697816.1:c.*31-52G>T ENSP00000513451.1:n.*31-52G>T
ENST00000301821.11:c.134-52G>T MANE Select ENSP00000346067.4:n.134-52G>T
ENST00000301821.10:c.134-52G>T ENSP00000346067.4:n.134-52G>T
ENST00000443003.2:c.134-52G>T ENSP00000389351.1:n.134-52G>T
ENST00000444512.2:c.134-52G>T ENSP00000396716.2:n.134-52G>T
ENST00000458478.5:c.134-52G>T ENSP00000410848.1:n.134-52G>T
ENST00000477325.1:n.216-52G>T
ENST00000478027.2:n.351G>T
NM_001304288.1:c.134-52G>T NP_001291217.1:n.134-52G>T
NM_002295.5:c.134-52G>T NP_002286.2:n.134-52G>T
NM_002295.6:c.134-52G>T MANE Select NP_002286.2:n.134-52G>T
NM_001304288.2:c.134-52G>T NP_001291217.1:n.134-52G>T