Canonical Allele Identifier: CA383030143
Gene: SC5D HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.121177961C>G (hg19) chr11:g.121307252C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121307252C>G , CM000673.2:g.121307252C>G GRCh38
NC_000011.9:g.121177961C>G , CM000673.1:g.121177961C>G GRCh37
NC_000011.8:g.120683171C>G NCBI36
NG_009446.1:g.19574C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264027.9:c.640C>G MANE Select ENSP00000264027.4:p.Arg214Gly
ENST00000264027.8:c.640C>G ENSP00000264027.4:p.Arg214Gly
ENST00000392789.2:c.640C>G ENSP00000376539.2:p.Arg214Gly
ENST00000527183.1:n.933C>G
ENST00000528991.1:n.333C>G
ENST00000534230.5:c.631+9C>G ENSP00000432550.1:n.631+9C>G
NM_001024956.2:c.640C>G NP_001020127.1:p.Arg214Gly
NM_006918.4:c.640C>G NP_008849.2:p.Arg214Gly
NM_006918.5:c.640C>G MANE Select NP_008849.2:p.Arg214Gly
NM_001024956.3:c.640C>G NP_001020127.1:p.Arg214Gly
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