Canonical Allele Identifier: CA6328193
Gene: SC5D HGNC NCBI

Linked Data

ClinVar Variation Id: 733321
ClinVar RCV Id: RCV000908590 RCV001104114
dbSNP Id: rs144180704
ExAC: 11:121177865 A / G
gnomAD v2: 11-121177865-A-G
gnomAD v3: 11-121307156-A-G
gnomAD v4: 11-121307156-A-G
MyVariant Identifiers: chr11:g.121177865A>G (hg19) chr11:g.121307156A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121307156A>G , CM000673.2:g.121307156A>G GRCh38
NC_000011.9:g.121177865A>G , CM000673.1:g.121177865A>G GRCh37
NC_000011.8:g.120683075A>G NCBI36
NG_009446.1:g.19478A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264027.9:c.544A>G MANE Select ENSP00000264027.4:p.Ile182Val
ENST00000264027.8:c.544A>G ENSP00000264027.4:p.Ile182Val
ENST00000392789.2:c.544A>G ENSP00000376539.2:p.Ile182Val
ENST00000527183.1:n.837A>G
ENST00000528991.1:n.237A>G
ENST00000534230.5:c.544A>G ENSP00000432550.1:p.Ile182Val
NM_001024956.2:c.544A>G NP_001020127.1:p.Ile182Val
NM_006918.4:c.544A>G NP_008849.2:p.Ile182Val
NM_006918.5:c.544A>G MANE Select NP_008849.2:p.Ile182Val
NM_001024956.3:c.544A>G NP_001020127.1:p.Ile182Val
Search 100 bp 5'
Search 100 bp 3'