Canonical Allele Identifier: CA383030665
Gene: SC5D HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.121178082T>C (hg19) chr11:g.121307373T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121307373T>C , CM000673.2:g.121307373T>C GRCh38
NC_000011.9:g.121178082T>C , CM000673.1:g.121178082T>C GRCh37
NC_000011.8:g.120683292T>C NCBI36
NG_009446.1:g.19695T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264027.9:c.761T>C MANE Select ENSP00000264027.4:p.Phe254Ser
ENST00000264027.8:c.761T>C ENSP00000264027.4:p.Phe254Ser
ENST00000392789.2:c.761T>C ENSP00000376539.2:p.Phe254Ser
ENST00000527183.1:n.1054T>C
ENST00000534230.5:c.632-84T>C ENSP00000432550.1:n.632-84T>C
NM_001024956.2:c.761T>C NP_001020127.1:p.Phe254Ser
NM_006918.4:c.761T>C NP_008849.2:p.Phe254Ser
NM_006918.5:c.761T>C MANE Select NP_008849.2:p.Phe254Ser
NM_001024956.3:c.761T>C NP_001020127.1:p.Phe254Ser
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