Canonical Allele Identifier: CA8651656
Gene: SPATA20 HGNC NCBI
ClinVar RCV:
RCV004233272
ClinVar Variation:
2396652
dbSNP:
144278961
gnomAD v2:
17:48629399 G / C
gnomAD v3:
17:50552038 G / C
gnomAD v4:
chr17-50552038-G-C
Joint Max Group AF 0.00060467 (AMR)
Genomes Max Group AF 0.00030664 (AMR)
Exomes Max Group AF 0.00063642 (AMR)
MyVariant.info:
GRCh38 chr17:g.50552038G>C
GRCh37 chr17:g.48629399G>C
Revel Score:
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50552038G>C , CM000679.2:g.50552038G>C GRCh38
NC_000017.10:g.48629399G>C , CM000679.1:g.48629399G>C GRCh37
NC_000017.9:g.45984398G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000006658.11:c.1815G>C MANE Select ENSP00000006658.6:p.Glu605Asp
ENST00000006658.10:c.1815G>C ENSP00000006658.6:p.Glu605Asp
ENST00000356488.8:c.1767G>C ENSP00000348878.4:p.Glu589Asp
ENST00000503063.5:n.2448G>C
ENST00000503127.5:c.*1738G>C ENSP00000426228.1:n.*1738G>C
ENST00000504334.5:c.*1830G>C ENSP00000424215.1:n.*1830G>C
ENST00000511937.5:c.*233G>C ENSP00000489476.1:n.*233G>C
ENST00000619622.4:c.1635G>C ENSP00000483295.1:p.Glu545Asp
ENST00000634597.1:c.1767G>C ENSP00000489591.1:p.Glu589Asp
NM_001258372.1:c.1767G>C NP_001245301.1:p.Glu589Asp
NM_001258373.1:c.1635G>C NP_001245302.1:p.Glu545Asp
NM_022827.3:c.1815G>C NP_073738.2:p.Glu605Asp
NM_022827.4:c.1815G>C MANE Select NP_073738.2:p.Glu605Asp
NM_001258372.2:c.1767G>C NP_001245301.1:p.Glu589Asp
NM_001258373.2:c.1635G>C NP_001245302.1:p.Glu545Asp
Search 100 bp 5'
Search 100 bp 3'