Canonical Allele Identifier: CA383030535
Gene: SC5D HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.121178051T>A (hg19) chr11:g.121307342T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121307342T>A , CM000673.2:g.121307342T>A GRCh38
NC_000011.9:g.121178051T>A , CM000673.1:g.121178051T>A GRCh37
NC_000011.8:g.120683261T>A NCBI36
NG_009446.1:g.19664T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264027.9:c.730T>A MANE Select ENSP00000264027.4:p.Phe244Ile
ENST00000264027.8:c.730T>A ENSP00000264027.4:p.Phe244Ile
ENST00000392789.2:c.730T>A ENSP00000376539.2:p.Phe244Ile
ENST00000527183.1:n.1023T>A
ENST00000534230.5:c.631+99T>A ENSP00000432550.1:n.631+99T>A
NM_001024956.2:c.730T>A NP_001020127.1:p.Phe244Ile
NM_006918.4:c.730T>A NP_008849.2:p.Phe244Ile
NM_006918.5:c.730T>A MANE Select NP_008849.2:p.Phe244Ile
NM_001024956.3:c.730T>A NP_001020127.1:p.Phe244Ile
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