Canonical Allele Identifier: CA385116056

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.54000621T>G , CM000674.2:g.54000621T>G GRCh38
NC_000012.11:g.54394405T>G , CM000674.1:g.54394405T>G GRCh37
NC_000012.10:g.52680672T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000303450.5:c.433T>G (HOXC9) MANE Select ENSP00000302836.4:p.Ser145Ala
ENST00000303450.4:c.433T>G (HOXC9) ENSP00000302836.4:p.Ser145Ala
ENST00000504315.1:c.-193+9807T>G (HOXC6) ENSP00000424124.1:n.-193+9807T>G
ENST00000504557.1:n.123-1809T>G (HOXC9)
ENST00000508190.1:c.433T>G (HOXC9) ENSP00000423861.1:p.Ser145Ala
ENST00000509328.1:c.-73+5605T>G (HOXC6) ENSP00000423898.1:n.-73+5605T>G
ENST00000513209.1:c.166+14611T>G ENSP00000476742.1:n.166+14611T>G
NM_006897.1:c.433T>G (HOXC9) NP_008828.1:p.Ser145Ala
NM_006897.2:c.433T>G (HOXC9) NP_008828.1:p.Ser145Ala
NM_006897.3:c.433T>G (HOXC9) MANE Select NP_008828.1:p.Ser145Ala