Canonical Allele Identifier: CA118738
Gene: SC5D HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.121303512A>C
GRCh37 chr11:g.121174221A>C
Revel Score:
ENST00000264027 (MANE Select) 0.862
ENST00000527762 0.862
ENST00000534230 0.862
ENST00000392789 0.862
gnomAD v2:
11:121174221 A / C
gnomAD v3:
11:121303512 A / C
gnomAD v4:
chr11-121303512-A-C
Joint Max Group AF 6.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV000007781
ClinVar Variation:
7356
dbSNP:
104894297
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121303512A>C , CM000673.2:g.121303512A>C GRCh38
NC_000011.9:g.121174221A>C , CM000673.1:g.121174221A>C GRCh37
NC_000011.8:g.120679431A>C NCBI36
NG_009446.1:g.15834A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264027.9:c.137A>C MANE Select ENSP00000264027.4:p.Tyr46Ser
ENST00000264027.8:c.137A>C ENSP00000264027.4:p.Tyr46Ser
ENST00000392789.2:c.137A>C ENSP00000376539.2:p.Tyr46Ser
ENST00000524683.5:n.193A>C
ENST00000527762.5:c.137A>C ENSP00000436290.1:p.Tyr46Ser
ENST00000531140.1:n.205A>C
ENST00000534230.5:c.137A>C ENSP00000432550.1:p.Tyr46Ser
ENST00000534455.5:n.283A>C
NM_001024956.2:c.137A>C NP_001020127.1:p.Tyr46Ser
NM_006918.4:c.137A>C NP_008849.2:p.Tyr46Ser
NM_006918.5:c.137A>C MANE Select NP_008849.2:p.Tyr46Ser
NM_001024956.3:c.137A>C NP_001020127.1:p.Tyr46Ser
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