Canonical Allele Identifier: CA13250340
Gene: SCD HGNC NCBI
gnomAD v2:
10:102114463 A / C
gnomAD v3:
10:100354706 A / C
gnomAD v4:
chr10-100354706-A-C
Joint Max Group AF 0.30025758 (NFE)
Genomes Max Group AF 0.32314162 (EAS)
Exomes Max Group AF 0.29952045 (NFE)
dbSNP:
3071
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.100354706A>C , CM000672.2:g.100354706A>C GRCh38
NC_000010.10:g.102114463A>C , CM000672.1:g.102114463A>C GRCh37
NC_000010.9:g.102104453A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000370355.3:c.647+74A>C MANE Select ENSP00000359380.2:n.647+74A>C
ENST00000370355.2:c.647+74A>C ENSP00000359380.2:n.647+74A>C
NM_005063.4:c.647+74A>C NP_005054.3:n.647+74A>C
NM_005063.5:c.647+74A>C MANE Select NP_005054.3:n.647+74A>C
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