Canonical Allele Identifier: CA6604781

Gene: HOXC9 HOXC6

Linked Data

• dbSNP Id: rs758746384
• ExAC: 12:54394508 C / T
• gnomAD v2: 12-54394508-C-T
• gnomAD v3: 12-54000724-C-T
• gnomAD v4: 12-54000724-C-T
• MyVariant Identifiers: chr12:g.54394508C>T (hg19) ; chr12:g.54000724C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.54000724C>T , CM000674.2:g.54000724C>T	GRCh38
NC_000012.11:g.54394508C>T , CM000674.1:g.54394508C>T	GRCh37
NC_000012.10:g.52680775C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303450.5:c.536C>T (HOXC9) MANE Select	ENSP00000302836.4:p.Pro179Leu
ENST00000303450.4:c.536C>T (HOXC9)	ENSP00000302836.4:p.Pro179Leu
ENST00000504315.1:c.-193+9910C>T (HOXC6)	ENSP00000424124.1:n.-193+9910C>T
ENST00000504557.1:n.123-1706C>T (HOXC9)
ENST00000508190.1:c.536C>T (HOXC9)	ENSP00000423861.1:p.Pro179Leu
ENST00000509328.1:c.-73+5708C>T (HOXC6)	ENSP00000423898.1:n.-73+5708C>T
ENST00000513209.1:c.166+14714C>T	ENSP00000476742.1:n.166+14714C>T
NM_006897.1:c.536C>T (HOXC9)	NP_008828.1:p.Pro179Leu
NM_006897.2:c.536C>T (HOXC9)	NP_008828.1:p.Pro179Leu
NM_006897.3:c.536C>T (HOXC9) MANE Select	NP_008828.1:p.Pro179Leu