Canonical Allele Identifier: CA3771844
Gene: RPL10A HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.35468809T>C
GRCh37 chr6:g.35436586T>C
Revel Score:
ENST00000322203 (MANE Select) 0.226
gnomAD v2:
6:35436586 T / C
gnomAD v4:
chr6-35468809-T-C
Joint Max Group AF 0.00005844 (EAS)
Exomes Max Group AF 0.00006582 (EAS)
ClinVar RCV:
RCV004340682
ClinVar Variation:
2596513
dbSNP:
774909177
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35468809T>C , CM000668.2:g.35468809T>C GRCh38
NC_000006.11:g.35436586T>C , CM000668.1:g.35436586T>C GRCh37
NC_000006.10:g.35544564T>C NCBI36
NG_011708.1:g.21449T>C , LRG_498:g.21449T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000322203.7:c.16T>C MANE Select ENSP00000363018.3:p.Ser6Pro
ENST00000322203.6:c.16T>C ENSP00000363018.3:p.Ser6Pro
ENST00000464112.5:n.390T>C
ENST00000467020.5:n.43T>C
ENST00000478340.2:n.31T>C
ENST00000490335.4:n.31T>C
NM_007104.4:c.16T>C NP_009035.3:p.Ser6Pro
XM_017010900.1:c.-495T>C XP_016866389.1:n.-495T>C
NM_007104.5:c.16T>C MANE Select NP_009035.3:p.Ser6Pro
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