Canonical Allele Identifier: CA406030448

Gene: RPS19

Linked Data

• dbSNP Id: rs1253528744
• gnomAD v2: 19-42373206-G-C
• gnomAD v3: 19-41869136-G-C
• gnomAD v4: 19-41869136-G-C
• MyVariant Identifiers: chr19:g.42373206G>C (hg19) ; chr19:g.41869136G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41869136G>C , CM000681.2:g.41869136G>C	GRCh38
NC_000019.9:g.42373206G>C , CM000681.1:g.42373206G>C	GRCh37
NC_000019.8:g.47065046G>C	NCBI36
NG_007080.2:g.14219G>C
NG_007080.3:g.14219G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000598261.2:c.291G>C	ENSP00000469798.1:p.Gln97His
ENST00000598742.6:c.278G>C MANE Select	ENSP00000470972.1:p.Ser93Thr
ENST00000600467.6:c.278G>C	ENSP00000469228.2:p.Ser93Thr
ENST00000221975.6:c.56G>C	ENSP00000221975.2:p.Ser19Thr
ENST00000593863.5:c.278G>C	ENSP00000470004.1:p.Ser93Thr
ENST00000598261.1:c.291G>C	ENSP00000469798.1:p.Gln97His
ENST00000598399.1:c.1116G>C	ENSP00000472660.1:n.1116G>C
ENST00000598742.5:c.278G>C	ENSP00000470972.1:p.Ser93Thr
NM_001022.3:c.278G>C	NP_001013.1:p.Ser93Thr
NM_001321483.1:c.278G>C	NP_001308412.1:p.Ser93Thr
NM_001321484.1:c.278G>C	NP_001308413.1:p.Ser93Thr
NM_001321485.1:c.291G>C	NP_001308414.1:p.Gln97His
XM_017027113.2:c.278G>C	XP_016882602.1:p.Ser93Thr
NM_001022.4:c.278G>C MANE Select	NP_001013.1:p.Ser93Thr
NM_001321483.2:c.278G>C	NP_001308412.1:p.Ser93Thr
NM_001321484.2:c.278G>C	NP_001308413.1:p.Ser93Thr
NM_001321485.2:c.291G>C	NP_001308414.1:p.Gln97His