Canonical Allele Identifier: CA383030371
Gene: SC5D HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.121178016A>C (hg19) chr11:g.121307307A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121307307A>C , CM000673.2:g.121307307A>C GRCh38
NC_000011.9:g.121178016A>C , CM000673.1:g.121178016A>C GRCh37
NC_000011.8:g.120683226A>C NCBI36
NG_009446.1:g.19629A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264027.9:c.695A>C MANE Select ENSP00000264027.4:p.His232Pro
ENST00000264027.8:c.695A>C ENSP00000264027.4:p.His232Pro
ENST00000392789.2:c.695A>C ENSP00000376539.2:p.His232Pro
ENST00000527183.1:n.988A>C
ENST00000534230.5:c.631+64A>C ENSP00000432550.1:n.631+64A>C
NM_001024956.2:c.695A>C NP_001020127.1:p.His232Pro
NM_006918.4:c.695A>C NP_008849.2:p.His232Pro
NM_006918.5:c.695A>C MANE Select NP_008849.2:p.His232Pro
NM_001024956.3:c.695A>C NP_001020127.1:p.His232Pro
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