Canonical Allele Identifier: CA2894388
Gene: RPL9 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.39458240T>C
GRCh37 chr4:g.39459860T>C
Revel Score:
ENST00000295955 (MANE Select) 0.028
ENST00000449470 0.028
ENST00000394452 0.028
ENST00000503040 0.028
ENST00000504470 0.028
gnomAD v2:
4:39459860 T / C
gnomAD v3:
4:39458240 T / C
gnomAD v4:
chr4-39458240-T-C
Joint Max Group AF 0.00005434 (AMR)
Exomes Max Group AF 0.00005804 (AMR)
ClinVar RCV:
RCV002624643
ClinVar Variation:
2197045
dbSNP:
756847748
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.39458240T>C , CM000666.2:g.39458240T>C GRCh38
NC_000004.11:g.39459860T>C , CM000666.1:g.39459860T>C GRCh37
NC_000004.10:g.39136255T>C NCBI36
NG_032111.1:g.4196T>C
NG_052985.1:g.5709A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295955.14:c.116A>G MANE Select ENSP00000346022.7:p.Asn39Ser
ENST00000503277.6:c.200A>G ENSP00000494836.1:p.Asn67Ser
ENST00000508595.6:c.-122A>G ENSP00000425250.2:n.-122A>G
ENST00000514842.6:n.578A>G
ENST00000642337.1:n.149A>G
ENST00000645496.2:c.116A>G ENSP00000494697.1:p.Asn39Ser
ENST00000645585.1:n.125A>G
ENST00000645894.1:n.226A>G
ENST00000295955.13:c.116A>G ENSP00000346022.7:p.Asn39Ser
ENST00000437992.2:n.226A>G
ENST00000449470.6:c.116A>G ENSP00000400467.2:p.Asn39Ser
ENST00000503040.5:c.116A>G ENSP00000421872.1:p.Asn39Ser
ENST00000503277.5:n.202A>G
ENST00000504470.1:c.116A>G ENSP00000422191.1:p.Asn39Ser
ENST00000508595.5:c.105A>G
ENST00000511075.5:n.158A>G
ENST00000514842.5:n.578A>G
NM_000661.4:c.116A>G NP_000652.2:p.Asn39Ser
NM_001024921.2:c.116A>G NP_001020092.1:p.Asn39Ser
XM_005262661.1:c.116A>G XP_005262718.1:p.Asn39Ser
NM_001024921.3:c.116A>G NP_001020092.1:p.Asn39Ser
XM_024454182.1:c.200A>G XP_024309950.1:p.Asn67Ser
NM_000661.5:c.116A>G MANE Select NP_000652.2:p.Asn39Ser
NM_001024921.4:c.116A>G NP_001020092.1:p.Asn39Ser
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