Canonical Allele Identifier: CA480091580

Gene: HOXC9 HOXC6

Linked Data

• gnomAD v4: 12-54000716-C-T
• MyVariant Identifiers: chr12:g.54394500C>T (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303450.5:c.528C>T (HOXC9) MANE Select	ENSP00000302836.4:p.Asp176=
ENST00000303450.4:c.528C>T (HOXC9)	ENSP00000302836.4:p.Asp176=
ENST00000504315.1:c.-193+9902C>T (HOXC6)	ENSP00000424124.1:n.-193+9902C>T
ENST00000504557.1:n.123-1714C>T (HOXC9)
ENST00000508190.1:c.528C>T (HOXC9)	ENSP00000423861.1:p.Asp176=
ENST00000509328.1:c.-73+5700C>T (HOXC6)	ENSP00000423898.1:n.-73+5700C>T
ENST00000513209.1:c.166+14706C>T	ENSP00000476742.1:n.166+14706C>T
NM_006897.1:c.528C>T (HOXC9)	NP_008828.1:p.Asp176=
NM_006897.2:c.528C>T (HOXC9)	NP_008828.1:p.Asp176=
NM_006897.3:c.528C>T (HOXC9) MANE Select	NP_008828.1:p.Asp176=