Canonical Allele Identifier: CA118734
Gene: SC5D HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.121303461G>A
GRCh37 chr11:g.121174170G>A
Revel Score:
ENST00000264027 (MANE Select) 0.813
ENST00000527762 0.813
ENST00000534230 0.813
ENST00000392789 0.813
gnomAD v2:
11:121174170 G / A
gnomAD v4:
chr11-121303461-G-A
Joint Max Group AF 0.00001426 (SAS)
Exomes Max Group AF 0.00002375 (AFR)
ClinVar RCV:
RCV000007779
ClinVar Variation:
7354
dbSNP:
104894295
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121303461G>A , CM000673.2:g.121303461G>A GRCh38
NC_000011.9:g.121174170G>A , CM000673.1:g.121174170G>A GRCh37
NC_000011.8:g.120679380G>A NCBI36
NG_009446.1:g.15783G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264027.9:c.86G>A MANE Select ENSP00000264027.4:p.Arg29Gln
ENST00000264027.8:c.86G>A ENSP00000264027.4:p.Arg29Gln
ENST00000392789.2:c.86G>A ENSP00000376539.2:p.Arg29Gln
ENST00000524683.5:n.142G>A
ENST00000527762.5:c.86G>A ENSP00000436290.1:p.Arg29Gln
ENST00000531140.1:n.154G>A
ENST00000534230.5:c.86G>A ENSP00000432550.1:p.Arg29Gln
ENST00000534455.5:n.232G>A
NM_001024956.2:c.86G>A NP_001020127.1:p.Arg29Gln
NM_006918.4:c.86G>A NP_008849.2:p.Arg29Gln
NM_006918.5:c.86G>A MANE Select NP_008849.2:p.Arg29Gln
NM_001024956.3:c.86G>A NP_001020127.1:p.Arg29Gln
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