Canonical Allele Identifier: CA241313
Gene: SGCG HGNC NCBI
MyVariant.info:
GRCh38 chr13:g.23203752A>G
GRCh37 chr13:g.23777891A>G
Revel Score:
ENST00000218867 (MANE Select) 0.249
ENST00000537476 0.249
ENST00000545013 0.249
gnomAD v2:
13:23777891 A / G
gnomAD v3:
13:23203752 A / G
gnomAD v4:
chr13-23203752-A-G
Joint Max Group AF 0.00169301 (AMR)
Genomes Max Group AF 0.00431073 (AMR)
Exomes Max Group AF 0.00065491 (AMR)
ClinVar RCV:
RCV000175560
RCV000818118
ClinVar Variation:
195047
dbSNP:
763248287
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23203752A>G , CM000675.2:g.23203752A>G GRCh38
NC_000013.10:g.23777891A>G , CM000675.1:g.23777891A>G GRCh37
NC_000013.9:g.22675891A>G NCBI36
NG_008759.1:g.27832A>G , LRG_207:g.27832A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000218867.4:c.58A>G MANE Select ENSP00000218867.3:p.Asn20Asp
ENST00000218867.3:c.58A>G ENSP00000218867.3:p.Asn20Asp
NM_000231.2:c.58A>G , LRG_207t1:c.58A>G NP_000222.1:p.Asn20Asp
XM_005266505.2:c.58A>G XP_005266562.1:p.Asn20Asp
XM_006719861.2:c.112A>G XP_006719924.1:p.Asn38Asp
XM_006719861.3:c.112A>G XP_006719924.1:p.Asn38Asp
XM_024449397.1:c.58A>G XP_024305165.1:p.Asn20Asp
NM_000231.3:c.58A>G MANE Select NP_000222.2:p.Asn20Asp
NM_001378244.1:c.112A>G NP_001365173.1:p.Asn38Asp
NM_001378245.1:c.58A>G NP_001365174.1:p.Asn20Asp
NM_001378246.1:c.58A>G NP_001365175.1:p.Asn20Asp
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