Canonical Allele Identifier: CA406030614

Gene: RPS19

Linked Data

• gnomAD v4: 19-41869209-A-T
• MyVariant Identifiers: chr19:g.42373279A>T (hg19) ; chr19:g.41869209A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41869209A>T , CM000681.2:g.41869209A>T	GRCh38
NC_000019.9:g.42373279A>T , CM000681.1:g.42373279A>T	GRCh37
NC_000019.8:g.47065119A>T	NCBI36
NG_007080.2:g.14292A>T
NG_007080.3:g.14292A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000598742.6:c.351A>T MANE Select	ENSP00000470972.1:p.Gln117His
ENST00000600467.6:c.351A>T	ENSP00000469228.2:p.Gln117His
ENST00000221975.6:c.129A>T	ENSP00000221975.2:p.Gln43His
ENST00000593863.5:c.351A>T	ENSP00000470004.1:p.Gln117His
ENST00000598742.5:c.351A>T	ENSP00000470972.1:p.Gln117His
NM_001022.3:c.351A>T	NP_001013.1:p.Gln117His
NM_001321483.1:c.351A>T	NP_001308412.1:p.Gln117His
NM_001321484.1:c.351A>T	NP_001308413.1:p.Gln117His
NM_001321485.1:c.364A>T	NP_001308414.1:p.Arg122Ter
XM_017027113.2:c.351A>T	XP_016882602.1:p.Gln117His
NM_001022.4:c.351A>T MANE Select	NP_001013.1:p.Gln117His
NM_001321483.2:c.351A>T	NP_001308412.1:p.Gln117His
NM_001321484.2:c.351A>T	NP_001308413.1:p.Gln117His
NM_001321485.2:c.364A>T	NP_001308414.1:p.Arg122Ter