Canonical Allele Identifier: CA5648570
Gene: SCD HGNC NCBI
COSMIC:
COSM3997733 (not active)
MyVariant.info:
GRCh38 chr10:g.100356554A>C
GRCh37 chr10:g.102116311A>C
Revel Score:
ENST00000423840 0.059
ENST00000370355 (MANE Select) 0.059
gnomAD v2:
10:102116311 A / C
gnomAD v3:
10:100356554 A / C
gnomAD v4:
chr10-100356554-A-C
Joint Max Group AF 0.53606469 (AMR)
Genomes Max Group AF 0.48161364 (AMR)
Exomes Max Group AF 0.55231365 (AMR)
dbSNP:
2234970
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.100356554A>C , CM000672.2:g.100356554A>C GRCh38
NC_000010.10:g.102116311A>C , CM000672.1:g.102116311A>C GRCh37
NC_000010.9:g.102106301A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000370355.3:c.670A>C MANE Select ENSP00000359380.2:p.Met224Leu
ENST00000370355.2:c.670A>C ENSP00000359380.2:p.Met224Leu
NM_005063.4:c.670A>C NP_005054.3:p.Met224Leu
NM_005063.5:c.670A>C MANE Select NP_005054.3:p.Met224Leu
Search 100 bp 5'
Search 100 bp 3'