Canonical Allele Identifier: CA385116064

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.54000625C>A , CM000674.2:g.54000625C>A GRCh38
NC_000012.11:g.54394409C>A , CM000674.1:g.54394409C>A GRCh37
NC_000012.10:g.52680676C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303450.5:c.437C>A (HOXC9) MANE Select ENSP00000302836.4:p.Pro146His
ENST00000303450.4:c.437C>A (HOXC9) ENSP00000302836.4:p.Pro146His
ENST00000504315.1:c.-193+9811C>A (HOXC6) ENSP00000424124.1:n.-193+9811C>A
ENST00000504557.1:n.123-1805C>A (HOXC9)
ENST00000508190.1:c.437C>A (HOXC9) ENSP00000423861.1:p.Pro146His
ENST00000509328.1:c.-73+5609C>A (HOXC6) ENSP00000423898.1:n.-73+5609C>A
ENST00000513209.1:c.166+14615C>A ENSP00000476742.1:n.166+14615C>A
NM_006897.1:c.437C>A (HOXC9) NP_008828.1:p.Pro146His
NM_006897.2:c.437C>A (HOXC9) NP_008828.1:p.Pro146His
NM_006897.3:c.437C>A (HOXC9) MANE Select NP_008828.1:p.Pro146His