Canonical Allele Identifier: CA486337212

Gene: RPS29

Linked Data

• gnomAD v4: 14-49585971-C-A
• MyVariant Identifiers: chr14:g.50052689C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.49585971C>A , CM000676.2:g.49585971C>A	GRCh38
NC_000014.8:g.50052689C>A , CM000676.1:g.50052689C>A	GRCh37
NC_000014.7:g.49122439C>A	NCBI36
NG_050638.2:g.17740G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245458.11:c.141G>T MANE Select	ENSP00000245458.7:p.Ala47=
ENST00000554075.2:c.141G>T	ENSP00000496485.1:p.Ala47=
ENST00000556230.2:c.141G>T	ENSP00000495033.1:p.Ala47=
ENST00000245458.10:c.141G>T	ENSP00000245458.6:p.Ala47=
ENST00000396020.7:c.141G>T	ENSP00000379339.3:p.Ala47=
ENST00000554075.1:n.153G>T
ENST00000556230.1:n.171G>T
ENST00000557111.5:c.132G>T	ENSP00000478117.1:p.Ala44=
ENST00000557367.2:n.381G>T
ENST00000557519.1:n.120G>T
ENST00000611563.1:c.141G>T	ENSP00000479892.1:p.Ala47=
NM_001030001.2:c.141G>T	NP_001025172.1:p.Ala47=
NM_001032.4:c.141G>T	NP_001023.1:p.Ala47=
NM_001030001.3:c.141G>T	NP_001025172.1:p.Ala47=
NM_001351375.1:c.132G>T	NP_001338304.1:p.Ala44=
NM_001030001.4:c.141G>T	NP_001025172.1:p.Ala47=
NM_001032.5:c.141G>T MANE Select	NP_001023.1:p.Ala47=
NM_001351375.2:c.132G>T	NP_001338304.1:p.Ala44=