Canonical Allele Identifier: CA385116042

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.54000615T>C , CM000674.2:g.54000615T>C GRCh38
NC_000012.11:g.54394399T>C , CM000674.1:g.54394399T>C GRCh37
NC_000012.10:g.52680666T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303450.5:c.427T>C (HOXC9) MANE Select ENSP00000302836.4:p.Tyr143His
ENST00000303450.4:c.427T>C (HOXC9) ENSP00000302836.4:p.Tyr143His
ENST00000504315.1:c.-193+9801T>C (HOXC6) ENSP00000424124.1:n.-193+9801T>C
ENST00000504557.1:n.123-1815T>C (HOXC9)
ENST00000508190.1:c.427T>C (HOXC9) ENSP00000423861.1:p.Tyr143His
ENST00000509328.1:c.-73+5599T>C (HOXC6) ENSP00000423898.1:n.-73+5599T>C
ENST00000513209.1:c.166+14605T>C ENSP00000476742.1:n.166+14605T>C
NM_006897.1:c.427T>C (HOXC9) NP_008828.1:p.Tyr143His
NM_006897.2:c.427T>C (HOXC9) NP_008828.1:p.Tyr143His
NM_006897.3:c.427T>C (HOXC9) MANE Select NP_008828.1:p.Tyr143His