Canonical Allele Identifier: CA385116271

Gene: HOXC9 HOXC6

Linked Data

• dbSNP Id: rs1297671775
• gnomAD v2: 12-54394507-C-A
• gnomAD v4: 12-54000723-C-A
• MyVariant Identifiers: chr12:g.54394507C>A (hg19) ; chr12:g.54000723C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.54000723C>A , CM000674.2:g.54000723C>A	GRCh38
NC_000012.11:g.54394507C>A , CM000674.1:g.54394507C>A	GRCh37
NC_000012.10:g.52680774C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303450.5:c.535C>A (HOXC9) MANE Select	ENSP00000302836.4:p.Pro179Thr
ENST00000303450.4:c.535C>A (HOXC9)	ENSP00000302836.4:p.Pro179Thr
ENST00000504315.1:c.-193+9909C>A (HOXC6)	ENSP00000424124.1:n.-193+9909C>A
ENST00000504557.1:n.123-1707C>A (HOXC9)
ENST00000508190.1:c.535C>A (HOXC9)	ENSP00000423861.1:p.Pro179Thr
ENST00000509328.1:c.-73+5707C>A (HOXC6)	ENSP00000423898.1:n.-73+5707C>A
ENST00000513209.1:c.166+14713C>A	ENSP00000476742.1:n.166+14713C>A
NM_006897.1:c.535C>A (HOXC9)	NP_008828.1:p.Pro179Thr
NM_006897.2:c.535C>A (HOXC9)	NP_008828.1:p.Pro179Thr
NM_006897.3:c.535C>A (HOXC9) MANE Select	NP_008828.1:p.Pro179Thr