Canonical Allele Identifier: CA389755382

Gene: RPS29

Linked Data

• ClinVar Variation Id: 2866763
• ClinVar RCV Id: RCV003700399
• MyVariant Identifiers: chr14:g.50052690G>A (hg19) ; chr14:g.49585972G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.49585972G>A , CM000676.2:g.49585972G>A	GRCh38
NC_000014.8:g.50052690G>A , CM000676.1:g.50052690G>A	GRCh37
NC_000014.7:g.49122440G>A	NCBI36
NG_050638.2:g.17739C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245458.11:c.140C>T MANE Select	ENSP00000245458.7:p.Ala47Val
ENST00000554075.2:c.140C>T	ENSP00000496485.1:p.Ala47Val
ENST00000556230.2:c.140C>T	ENSP00000495033.1:p.Ala47Val
ENST00000245458.10:c.140C>T	ENSP00000245458.6:p.Ala47Val
ENST00000396020.7:c.140C>T	ENSP00000379339.3:p.Ala47Val
ENST00000554075.1:n.152C>T
ENST00000556230.1:n.170C>T
ENST00000557111.5:c.131C>T	ENSP00000478117.1:p.Ala44Val
ENST00000557367.2:n.380C>T
ENST00000557519.1:n.119C>T
ENST00000611563.1:c.140C>T	ENSP00000479892.1:p.Ala47Val
NM_001030001.2:c.140C>T	NP_001025172.1:p.Ala47Val
NM_001032.4:c.140C>T	NP_001023.1:p.Ala47Val
NM_001030001.3:c.140C>T	NP_001025172.1:p.Ala47Val
NM_001351375.1:c.131C>T	NP_001338304.1:p.Ala44Val
NM_001030001.4:c.140C>T	NP_001025172.1:p.Ala47Val
NM_001032.5:c.140C>T MANE Select	NP_001023.1:p.Ala47Val
NM_001351375.2:c.131C>T	NP_001338304.1:p.Ala44Val