Canonical Allele Identifier: CA16619869
Gene: RPS29 HGNC NCBI

Linked Data

ClinVar Variation Id: 421606
ClinVar RCV Id: RCV000479059
dbSNP Id: rs1064795244
MyVariant Identifiers: chr14:g.50052757A>G (hg19) chr14:g.49586039A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49586039A>G , CM000676.2:g.49586039A>G GRCh38
NC_000014.8:g.50052757A>G , CM000676.1:g.50052757A>G GRCh37
NC_000014.7:g.49122507A>G NCBI36
NG_050638.2:g.17672T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000245458.11:c.73T>C MANE Select ENSP00000245458.7:p.Ser25Pro
ENST00000554075.2:c.73T>C ENSP00000496485.1:p.Ser25Pro
ENST00000556230.2:c.73T>C ENSP00000495033.1:p.Ser25Pro
ENST00000245458.10:c.73T>C ENSP00000245458.6:p.Ser25Pro
ENST00000396020.7:c.73T>C ENSP00000379339.3:p.Ser25Pro
ENST00000554075.1:n.85T>C
ENST00000556230.1:n.103T>C
ENST00000557111.5:c.64T>C ENSP00000478117.1:p.Ser22Pro
ENST00000557367.2:n.313T>C
ENST00000557519.1:n.52T>C
ENST00000611563.1:c.73T>C ENSP00000479892.1:p.Ser25Pro
NM_001030001.2:c.73T>C NP_001025172.1:p.Ser25Pro
NM_001032.4:c.73T>C NP_001023.1:p.Ser25Pro
NM_001030001.3:c.73T>C NP_001025172.1:p.Ser25Pro
NM_001351375.1:c.64T>C NP_001338304.1:p.Ser22Pro
NM_001030001.4:c.73T>C NP_001025172.1:p.Ser25Pro
NM_001032.5:c.73T>C MANE Select NP_001023.1:p.Ser25Pro
NM_001351375.2:c.64T>C NP_001338304.1:p.Ser22Pro
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