Canonical Allele Identifier: CA371282993
Community Standard Title: NM_001023.4(RPS20):c.251T>A (p.Ile84Asn)
Gene: RPS20 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.56073199A>T , CM000670.2:g.56073199A>T GRCh38
NC_000008.10:g.56985758A>T , CM000670.1:g.56985758A>T GRCh37
NC_000008.9:g.57148312A>T NCBI36
NG_042872.1:g.6383T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001023.4:c.251T>A MANE Select NP_001014.1:p.Ile84Asn
ENST00000009589.8:c.251T>A MANE Select ENSP00000009589.3:p.Ile84Asn
NM_001023.3:c.251T>A NP_001014.1:p.Ile84Asn
NM_001146227.1:c.251T>A NP_001139699.1:p.Ile84Asn
NM_001146227.2:c.251T>A NP_001139699.1:p.Ile84Asn
NM_001146227.3:c.251T>A NP_001139699.1:p.Ile84Asn
ENST00000009589.7:c.251T>A ENSP00000009589.3:p.Ile84Asn
ENST00000519606.5:c.*36T>A ENSP00000429333.1:n.*36T>A
ENST00000519807.5:c.251T>A ENSP00000429374.1:p.Ile84Asn
ENST00000520490.1:n.257T>A
ENST00000520627.1:c.86T>A ENSP00000427860.1:p.Ile29Asn
ENST00000521262.5:c.251T>A ENSP00000427788.1:p.Ile84Asn
ENST00000521289.5:n.665T>A
ENST00000523936.5:c.*487T>A ENSP00000428104.1:n.*487T>A
ENST00000524349.5:c.86T>A ENSP00000429049.1:p.Ile29Asn
ENST00000618656.1:c.251T>A ENSP00000478703.1:p.Ile84Asn
ENST00000618656.2:c.233T>A ENSP00000478703.2:p.Ile78Asn
ENST00000676461.1:c.251T>A ENSP00000504670.1:p.Ile84Asn
ENST00000676918.1:c.251T>A ENSP00000503327.1:p.Ile84Asn
ENST00000678039.1:c.251T>A ENSP00000504154.1:p.Ile84Asn
ENST00000678683.1:c.251T>A ENSP00000504123.1:p.Ile84Asn