Canonical Allele Identifier: CA406030597

Gene: RPS19

Linked Data

• gnomAD v4: 19-41869203-G-T
• MyVariant Identifiers: chr19:g.42373273G>T (hg19) ; chr19:g.41869203G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41869203G>T , CM000681.2:g.41869203G>T	GRCh38
NC_000019.9:g.42373273G>T , CM000681.1:g.42373273G>T	GRCh37
NC_000019.8:g.47065113G>T	NCBI36
NG_007080.2:g.14286G>T
NG_007080.3:g.14286G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000598742.6:c.345G>T MANE Select	ENSP00000470972.1:p.Lys115Asn
ENST00000600467.6:c.345G>T	ENSP00000469228.2:p.Lys115Asn
ENST00000221975.6:c.123G>T	ENSP00000221975.2:p.Lys41Asn
ENST00000593863.5:c.345G>T	ENSP00000470004.1:p.Lys115Asn
ENST00000598742.5:c.345G>T	ENSP00000470972.1:p.Lys115Asn
NM_001022.3:c.345G>T	NP_001013.1:p.Lys115Asn
NM_001321483.1:c.345G>T	NP_001308412.1:p.Lys115Asn
NM_001321484.1:c.345G>T	NP_001308413.1:p.Lys115Asn
NM_001321485.1:c.358G>T	NP_001308414.1:p.Gly120Ter
XM_017027113.2:c.345G>T	XP_016882602.1:p.Lys115Asn
NM_001022.4:c.345G>T MANE Select	NP_001013.1:p.Lys115Asn
NM_001321483.2:c.345G>T	NP_001308412.1:p.Lys115Asn
NM_001321484.2:c.345G>T	NP_001308413.1:p.Lys115Asn
NM_001321485.2:c.358G>T	NP_001308414.1:p.Gly120Ter