Canonical Allele Identifier: CA4075910
Gene: RSPH3 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.158983780C>T
GRCh37 chr6:g.159404812C>T
Revel Score:
ENST00000367069 (MANE Select) 0.159
ENST00000252655 0.159
gnomAD v2:
6:159404812 C / T
gnomAD v3:
6:158983780 C / T
gnomAD v4:
chr6-158983780-C-T
Joint Max Group AF 0.00511734 (SAS)
Genomes Max Group AF 0.00360869 (SAS)
Exomes Max Group AF 0.00512405 (SAS)
ClinVar Allele:
456062
ClinVar RCV:
RCV002060362
ClinVar Variation:
475839
dbSNP:
556783606
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.158983780C>T , CM000668.2:g.158983780C>T GRCh38
NC_000006.11:g.159404812C>T , CM000668.1:g.159404812C>T GRCh37
NC_000006.10:g.159324800C>T NCBI36
NG_051819.1:g.21408G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367069.7:c.374G>A MANE Select ENSP00000356036.1:p.Arg125His
ENST00000252655.1:c.800G>A ENSP00000252655.1:p.Arg267His
ENST00000367069.6:c.374G>A ENSP00000356036.1:p.Arg125His
ENST00000449822.5:c.205-1092G>A ENSP00000393195.1:n.205-1092G>A
NM_031924.4:c.800G>A NP_114130.3:p.Arg267His
XM_005267153.3:c.631-1092G>A XP_005267210.1:n.631-1092G>A
XR_245553.2:n.1256G>A
NM_001346418.1:c.631-1092G>A NP_001333347.1:n.631-1092G>A
NM_031924.5:c.800G>A NP_114130.3:p.Arg267His
NR_144434.1:n.1011G>A
XM_017011347.2:c.-17G>A XP_016866836.1:n.-17G>A
XM_024446566.1:c.-17G>A XP_024302334.1:n.-17G>A
XR_001743668.2:n.1250G>A
XR_001743669.2:n.1250G>A
XR_001743670.2:n.1081-1092G>A
XR_001743671.2:n.456G>A
NM_031924.6:c.800G>A NP_114130.3:p.Arg267His
NM_031924.8:c.374G>A MANE Select NP_114130.4:p.Arg125His
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