Canonical Allele Identifier: CA389755373

Gene: RPS29

Linked Data

• gnomAD v4: 14-49585967-C-T
• MyVariant Identifiers: chr14:g.50052685C>T (hg19) ; chr14:g.49585967C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.49585967C>T , CM000676.2:g.49585967C>T	GRCh38
NC_000014.8:g.50052685C>T , CM000676.1:g.50052685C>T	GRCh37
NC_000014.7:g.49122435C>T	NCBI36
NG_050638.2:g.17744G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245458.11:c.145G>A MANE Select	ENSP00000245458.7:p.Asp49Asn
ENST00000554075.2:c.145G>A	ENSP00000496485.1:p.Asp49Asn
ENST00000556230.2:c.145G>A	ENSP00000495033.1:p.Asp49Asn
ENST00000245458.10:c.145G>A	ENSP00000245458.6:p.Asp49Asn
ENST00000396020.7:c.145G>A	ENSP00000379339.3:p.Asp49Asn
ENST00000554075.1:n.157G>A
ENST00000556230.1:n.175G>A
ENST00000557111.5:c.136G>A	ENSP00000478117.1:p.Asp46Asn
ENST00000557367.2:n.385G>A
ENST00000557519.1:n.124G>A
ENST00000611563.1:c.145G>A	ENSP00000479892.1:p.Asp49Asn
NM_001030001.2:c.145G>A	NP_001025172.1:p.Asp49Asn
NM_001032.4:c.145G>A	NP_001023.1:p.Asp49Asn
NM_001030001.3:c.145G>A	NP_001025172.1:p.Asp49Asn
NM_001351375.1:c.136G>A	NP_001338304.1:p.Asp46Asn
NM_001030001.4:c.145G>A	NP_001025172.1:p.Asp49Asn
NM_001032.5:c.145G>A MANE Select	NP_001023.1:p.Asp49Asn
NM_001351375.2:c.136G>A	NP_001338304.1:p.Asp46Asn