Canonical Allele Identifier: CA385116260

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.54000716C>G , CM000674.2:g.54000716C>G GRCh38
NC_000012.11:g.54394500C>G , CM000674.1:g.54394500C>G GRCh37
NC_000012.10:g.52680767C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303450.5:c.528C>G (HOXC9) MANE Select ENSP00000302836.4:p.Asp176Glu
ENST00000303450.4:c.528C>G (HOXC9) ENSP00000302836.4:p.Asp176Glu
ENST00000504315.1:c.-193+9902C>G (HOXC6) ENSP00000424124.1:n.-193+9902C>G
ENST00000504557.1:n.123-1714C>G (HOXC9)
ENST00000508190.1:c.528C>G (HOXC9) ENSP00000423861.1:p.Asp176Glu
ENST00000509328.1:c.-73+5700C>G (HOXC6) ENSP00000423898.1:n.-73+5700C>G
ENST00000513209.1:c.166+14706C>G ENSP00000476742.1:n.166+14706C>G
NM_006897.1:c.528C>G (HOXC9) NP_008828.1:p.Asp176Glu
NM_006897.2:c.528C>G (HOXC9) NP_008828.1:p.Asp176Glu
NM_006897.3:c.528C>G (HOXC9) MANE Select NP_008828.1:p.Asp176Glu