Canonical Allele Identifier: CA406030127
Gene: RPS19 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41869083G>C , CM000681.2:g.41869083G>C GRCh38
NC_000019.9:g.42373153G>C , CM000681.1:g.42373153G>C GRCh37
NC_000019.8:g.47064993G>C NCBI36
NG_007080.2:g.14166G>C
NG_007080.3:g.14166G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000598261.2:c.238G>C ENSP00000469798.1:p.Asp80His
ENST00000598742.6:c.225G>C MANE Select ENSP00000470972.1:p.Met75Ile
ENST00000600467.6:c.225G>C ENSP00000469228.2:p.Met75Ile
ENST00000221975.6:c.3G>C ENSP00000221975.2:p.Met1Ile
ENST00000593863.5:c.225G>C ENSP00000470004.1:p.Met75Ile
ENST00000598261.1:c.238G>C ENSP00000469798.1:p.Asp80His
ENST00000598399.1:c.1063G>C ENSP00000472660.1:n.1063G>C
ENST00000598742.5:c.225G>C ENSP00000470972.1:p.Met75Ile
ENST00000600467.5:c.225G>C ENSP00000469228.1:p.Met75Ile
ENST00000601492.5:c.306G>C ENSP00000471621.1:p.Met102Ile
NM_001022.3:c.225G>C NP_001013.1:p.Met75Ile
NM_001321483.1:c.225G>C NP_001308412.1:p.Met75Ile
NM_001321484.1:c.225G>C NP_001308413.1:p.Met75Ile
NM_001321485.1:c.238G>C NP_001308414.1:p.Asp80His
XM_017027113.2:c.225G>C XP_016882602.1:p.Met75Ile
NM_001022.4:c.225G>C MANE Select NP_001013.1:p.Met75Ile
NM_001321483.2:c.225G>C NP_001308412.1:p.Met75Ile
NM_001321484.2:c.225G>C NP_001308413.1:p.Met75Ile
NM_001321485.2:c.238G>C NP_001308414.1:p.Asp80His