Canonical Allele Identifier: CA383030595
Gene: SC5D HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.121178064A>C (hg19) chr11:g.121307355A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121307355A>C , CM000673.2:g.121307355A>C GRCh38
NC_000011.9:g.121178064A>C , CM000673.1:g.121178064A>C GRCh37
NC_000011.8:g.120683274A>C NCBI36
NG_009446.1:g.19677A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264027.9:c.743A>C MANE Select ENSP00000264027.4:p.Asp248Ala
ENST00000264027.8:c.743A>C ENSP00000264027.4:p.Asp248Ala
ENST00000392789.2:c.743A>C ENSP00000376539.2:p.Asp248Ala
ENST00000527183.1:n.1036A>C
ENST00000534230.5:c.632-102A>C ENSP00000432550.1:n.632-102A>C
NM_001024956.2:c.743A>C NP_001020127.1:p.Asp248Ala
NM_006918.4:c.743A>C NP_008849.2:p.Asp248Ala
NM_006918.5:c.743A>C MANE Select NP_008849.2:p.Asp248Ala
NM_001024956.3:c.743A>C NP_001020127.1:p.Asp248Ala
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