Canonical Allele Identifier: CA122688
Gene: SDC3 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.30874473G>A
GRCh37 chr1:g.31347320G>A
Revel Score:
ENST00000336798 0.066
ENST00000339394 (MANE Select) 0.066
gnomAD v2:
1:31347320 G / A
gnomAD v3:
1:30874473 G / A
gnomAD v4:
chr1-30874473-G-A
Joint Max Group AF 0.55088994 (EAS)
Genomes Max Group AF 0.52284953 (EAS)
Exomes Max Group AF 0.55273637 (EAS)
ClinVar RCV:
RCV000013592
ClinVar Variation:
12755
dbSNP:
2282440
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.30874473G>A , CM000663.2:g.30874473G>A GRCh38
NC_000001.10:g.31347320G>A , CM000663.1:g.31347320G>A GRCh37
NC_000001.9:g.31119907G>A NCBI36
NG_013371.1:g.39161C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000339394.7:c.986C>T MANE Select ENSP00000344468.6:p.Thr329Ile
ENST00000336798.11:c.812C>T ENSP00000338346.7:p.Thr271Ile
ENST00000339394.6:c.986C>T ENSP00000344468.6:p.Thr329Ile
NM_014654.3:c.986C>T NP_055469.3:p.Thr329Ile
XM_011542462.1:c.989C>T XP_011540764.1:p.Thr330Ile
XM_011542463.1:c.953C>T XP_011540765.1:p.Thr318Ile
XM_011542464.1:c.950C>T XP_011540766.1:p.Thr317Ile
XM_011542465.1:c.911C>T XP_011540767.1:p.Thr304Ile
XM_011542466.1:c.860C>T XP_011540768.1:p.Thr287Ile
XM_011542464.2:c.950C>T XP_011540766.1:p.Thr317Ile
NM_014654.4:c.986C>T MANE Select NP_055469.3:p.Thr329Ile
Search 100 bp 5'
Search 100 bp 3'