Canonical Allele Identifier: CA385116058

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.54000622C>G , CM000674.2:g.54000622C>G GRCh38
NC_000012.11:g.54394406C>G , CM000674.1:g.54394406C>G GRCh37
NC_000012.10:g.52680673C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303450.5:c.434C>G (HOXC9) MANE Select ENSP00000302836.4:p.Ser145Trp
ENST00000303450.4:c.434C>G (HOXC9) ENSP00000302836.4:p.Ser145Trp
ENST00000504315.1:c.-193+9808C>G (HOXC6) ENSP00000424124.1:n.-193+9808C>G
ENST00000504557.1:n.123-1808C>G (HOXC9)
ENST00000508190.1:c.434C>G (HOXC9) ENSP00000423861.1:p.Ser145Trp
ENST00000509328.1:c.-73+5606C>G (HOXC6) ENSP00000423898.1:n.-73+5606C>G
ENST00000513209.1:c.166+14612C>G ENSP00000476742.1:n.166+14612C>G
NM_006897.1:c.434C>G (HOXC9) NP_008828.1:p.Ser145Trp
NM_006897.2:c.434C>G (HOXC9) NP_008828.1:p.Ser145Trp
NM_006897.3:c.434C>G (HOXC9) MANE Select NP_008828.1:p.Ser145Trp