Canonical Allele Identifier: CA6328138
Gene: SC5D HGNC NCBI
gnomAD v2:
11:121177206 T / C
gnomAD v3:
11:121306497 T / C
gnomAD v4:
chr11-121306497-T-C
Joint Max Group AF 0.00002966 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00002984 (NFE)
ClinVar RCV:
RCV000311343
RCV002520684
ClinVar Variation:
303054
dbSNP:
760625340
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121306497T>C , CM000673.2:g.121306497T>C GRCh38
NC_000011.9:g.121177206T>C , CM000673.1:g.121177206T>C GRCh37
NC_000011.8:g.120682416T>C NCBI36
NG_009446.1:g.18819T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264027.9:c.444+11T>C MANE Select ENSP00000264027.4:n.444+11T>C
ENST00000264027.8:c.444+11T>C ENSP00000264027.4:n.444+11T>C
ENST00000392789.2:c.444+11T>C ENSP00000376539.2:n.444+11T>C
ENST00000527183.1:n.737+11T>C
ENST00000527762.5:c.465+11T>C ENSP00000436290.1:n.465+11T>C
ENST00000528991.1:n.137+11T>C
ENST00000531140.1:n.523T>C
ENST00000534230.5:c.444+11T>C ENSP00000432550.1:n.444+11T>C
NM_001024956.2:c.444+11T>C NP_001020127.1:n.444+11T>C
NM_006918.4:c.444+11T>C NP_008849.2:n.444+11T>C
NM_006918.5:c.444+11T>C MANE Select NP_008849.2:n.444+11T>C
NM_001024956.3:c.444+11T>C NP_001020127.1:n.444+11T>C
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