Canonical Allele Identifier: CA13295672
Gene: SCD HGNC NCBI
gnomAD v2:
10:102122603 T / C
gnomAD v3:
10:100362846 T / C
gnomAD v4:
chr10-100362846-T-C
Joint Max Group AF 0.39064897 (AFR)
Genomes Max Group AF 0.3906145 (AFR)
Exomes Max Group AF 0.2044221 (AFR)
dbSNP:
7849
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.100362846T>C , CM000672.2:g.100362846T>C GRCh38
NC_000010.10:g.102122603T>C , CM000672.1:g.102122603T>C GRCh37
NC_000010.9:g.102112593T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000370355.3:c.*1913T>C MANE Select ENSP00000359380.2:n.*1913T>C
ENST00000370355.2:c.*1913T>C ENSP00000359380.2:n.*1913T>C
NM_005063.4:c.*1913T>C NP_005054.3:n.*1913T>C
NM_005063.5:c.*1913T>C MANE Select NP_005054.3:n.*1913T>C
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