Canonical Allele Identifier: CA4754476
Community Standard Title: NM_001023.4(RPS20):c.5C>T (p.Ala2Val)
Gene: RPS20 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.56074158G>A , CM000670.2:g.56074158G>A GRCh38
NC_000008.10:g.56986717G>A , CM000670.1:g.56986717G>A GRCh37
NC_000008.9:g.57149271G>A NCBI36
NG_042872.1:g.5424C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001023.4:c.5C>T MANE Select NP_001014.1:p.Ala2Val
ENST00000009589.8:c.5C>T MANE Select ENSP00000009589.3:p.Ala2Val
NM_001023.3:c.5C>T NP_001014.1:p.Ala2Val
NM_001146227.1:c.5C>T NP_001139699.1:p.Ala2Val
NM_001146227.2:c.5C>T NP_001139699.1:p.Ala2Val
NM_001146227.3:c.5C>T NP_001139699.1:p.Ala2Val
ENST00000009589.7:c.5C>T ENSP00000009589.3:p.Ala2Val
ENST00000518875.5:c.5C>T ENSP00000428146.1:p.Ala2Val
ENST00000519369.1:n.128C>T
ENST00000519606.5:c.5C>T ENSP00000429333.1:p.Ala2Val
ENST00000519807.5:c.5C>T ENSP00000429374.1:p.Ala2Val
ENST00000520490.1:n.93-8C>T
ENST00000520627.1:c.-63+223C>T ENSP00000427860.1:n.-63+223C>T
ENST00000521262.5:c.5C>T ENSP00000427788.1:p.Ala2Val
ENST00000521289.5:n.128C>T
ENST00000523936.5:c.5C>T ENSP00000428104.1:p.Ala2Val
ENST00000524349.5:c.-161C>T ENSP00000429049.1:n.-161C>T
ENST00000618656.1:c.5C>T ENSP00000478703.1:p.Ala2Val
ENST00000676461.1:c.5C>T ENSP00000504670.1:p.Ala2Val
ENST00000676918.1:c.5C>T ENSP00000503327.1:p.Ala2Val
ENST00000678039.1:c.5C>T ENSP00000504154.1:p.Ala2Val
ENST00000678683.1:c.5C>T ENSP00000504123.1:p.Ala2Val