Canonical Allele Identifier: CA6909702
Gene: SGCG HGNC NCBI
MyVariant.info:
GRCh38 chr13:g.23279470G>A
GRCh37 chr13:g.23853609G>A
Revel Score:
ENST00000218867 (MANE Select) 0.792
ENST00000537476 0.792
ENST00000545013 0.792
gnomAD v2:
13:23853609 G / A
gnomAD v3:
13:23279470 G / A
gnomAD v4:
chr13-23279470-G-A
Joint Max Group AF 0.00073183 (EAS)
Genomes Max Group AF 0.00063279 (EAS)
Exomes Max Group AF 0.00067401 (EAS)
ClinVar RCV:
RCV000636846
ClinVar Variation:
530807
dbSNP:
776289036
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23279470G>A , CM000675.2:g.23279470G>A GRCh38
NC_000013.10:g.23853609G>A , CM000675.1:g.23853609G>A GRCh37
NC_000013.9:g.22751609G>A NCBI36
NG_008759.1:g.103550G>A , LRG_207:g.103550G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000218867.4:c.497G>A MANE Select ENSP00000218867.3:p.Arg166Gln
ENST00000218867.3:c.497G>A ENSP00000218867.3:p.Arg166Gln
NM_000231.2:c.497G>A , LRG_207t1:c.497G>A NP_000222.1:p.Arg166Gln
XM_005266505.2:c.497G>A XP_005266562.1:p.Arg166Gln
XM_006719861.2:c.551G>A XP_006719924.1:p.Arg184Gln
XM_006719861.3:c.551G>A XP_006719924.1:p.Arg184Gln
XM_024449397.1:c.497G>A XP_024305165.1:p.Arg166Gln
NM_000231.3:c.497G>A MANE Select NP_000222.2:p.Arg166Gln
NM_001378244.1:c.551G>A NP_001365173.1:p.Arg184Gln
NM_001378245.1:c.497G>A NP_001365174.1:p.Arg166Gln
NM_001378246.1:c.497G>A NP_001365175.1:p.Arg166Gln
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