Canonical Allele Identifier: CA212918518
Gene: SCD HGNC NCBI
gnomAD v3:
10:100354706 A / T
gnomAD v4:
chr10-100354706-A-T
Joint Max Group AF 0.00001973 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00001905 (NFE)
dbSNP:
3071
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000370355.3:c.647+74A>T MANE Select ENSP00000359380.2:n.647+74A>T
ENST00000370355.2:c.647+74A>T ENSP00000359380.2:n.647+74A>T
NM_005063.4:c.647+74A>T NP_005054.3:n.647+74A>T
NM_005063.5:c.647+74A>T MANE Select NP_005054.3:n.647+74A>T
Search 100 bp 5'
Search 100 bp 3'