Canonical Allele Identifier: CA8651433
Gene: SPATA20 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50550726G>A , CM000679.2:g.50550726G>A GRCh38
NC_000017.10:g.48628087G>A , CM000679.1:g.48628087G>A GRCh37
NC_000017.9:g.45983086G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000006658.11:c.1192G>A MANE Select ENSP00000006658.6:p.Ala398Thr
ENST00000006658.10:c.1192G>A ENSP00000006658.6:p.Ala398Thr
ENST00000356488.8:c.1144G>A ENSP00000348878.4:p.Ala382Thr
ENST00000503063.5:n.1216G>A
ENST00000503127.5:c.*1115G>A ENSP00000426228.1:n.*1115G>A
ENST00000504265.5:n.299G>A
ENST00000504334.5:c.*1207G>A ENSP00000424215.1:n.*1207G>A
ENST00000505559.5:c.*1289G>A ENSP00000426025.1:n.*1289G>A
ENST00000505656.5:n.850G>A
ENST00000508528.1:c.135G>A
ENST00000511347.5:c.769G>A
ENST00000511937.5:c.1144G>A ENSP00000489476.1:p.Ala382Thr
ENST00000512181.5:n.1380G>A
ENST00000513618.1:n.327G>A
ENST00000515619.1:n.195G>A
ENST00000619622.4:c.1012G>A ENSP00000483295.1:p.Ala338Thr
ENST00000634597.1:c.1144G>A ENSP00000489591.1:p.Ala382Thr
ENST00000635113.1:n.1156G>A
NM_001258372.1:c.1144G>A NP_001245301.1:p.Ala382Thr
NM_001258373.1:c.1012G>A NP_001245302.1:p.Ala338Thr
NM_022827.3:c.1192G>A NP_073738.2:p.Ala398Thr
NM_022827.4:c.1192G>A MANE Select NP_073738.2:p.Ala398Thr
NM_001258372.2:c.1144G>A NP_001245301.1:p.Ala382Thr
NM_001258373.2:c.1012G>A NP_001245302.1:p.Ala338Thr