Canonical Allele Identifier: CA608622812
Gene: SGCG HGNC NCBI
MyVariant.info:
GRCh38 chr13:g.23234605T>A
GRCh37 chr13:g.23808744T>A
gnomAD v2:
13:23808744 T / A
gnomAD v3:
13:23234605 T / A
gnomAD v4:
chr13-23234605-T-A
Joint Max Group AF 0.00002581 (AFR)
Genomes Max Group AF 0.00000804 (AFR)
Exomes Max Group AF 0.00002446 (AFR)
ClinVar RCV:
RCV000593076
RCV002062043
ClinVar Variation:
499192
dbSNP:
1165407566
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23234605T>A , CM000675.2:g.23234605T>A GRCh38
NC_000013.10:g.23808744T>A , CM000675.1:g.23808744T>A GRCh37
NC_000013.9:g.22706744T>A NCBI36
NG_008759.1:g.58685T>A , LRG_207:g.58685T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000218867.4:c.196-6T>A MANE Select ENSP00000218867.3:n.196-6T>A
ENST00000218867.3:c.196-6T>A ENSP00000218867.3:n.196-6T>A
NM_000231.2:c.196-6T>A , LRG_207t1:c.196-6T>A NP_000222.1:n.196-6T>A
XM_005266505.2:c.196-6T>A XP_005266562.1:n.196-6T>A
XM_006719861.2:c.250-6T>A XP_006719924.1:n.250-6T>A
XM_006719861.3:c.250-6T>A XP_006719924.1:n.250-6T>A
XM_024449397.1:c.196-6T>A XP_024305165.1:n.196-6T>A
NM_000231.3:c.196-6T>A MANE Select NP_000222.2:n.196-6T>A
NM_001378244.1:c.250-6T>A NP_001365173.1:n.250-6T>A
NM_001378245.1:c.196-6T>A NP_001365174.1:n.196-6T>A
NM_001378246.1:c.196-6T>A NP_001365175.1:n.196-6T>A
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