Canonical Allele Identifier: CA385116038

Gene: HOXC9 HOXC6

Linked Data

• dbSNP Id: rs750168236
• gnomAD v4: 12-54000613-T-C
• MyVariant Identifiers: chr12:g.54394397T>C (hg19) ; chr12:g.54000613T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.54000613T>C , CM000674.2:g.54000613T>C	GRCh38
NC_000012.11:g.54394397T>C , CM000674.1:g.54394397T>C	GRCh37
NC_000012.10:g.52680664T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303450.5:c.425T>C (HOXC9) MANE Select	ENSP00000302836.4:p.Met142Thr
ENST00000303450.4:c.425T>C (HOXC9)	ENSP00000302836.4:p.Met142Thr
ENST00000504315.1:c.-193+9799T>C (HOXC6)	ENSP00000424124.1:n.-193+9799T>C
ENST00000504557.1:n.123-1817T>C (HOXC9)
ENST00000508190.1:c.425T>C (HOXC9)	ENSP00000423861.1:p.Met142Thr
ENST00000509328.1:c.-73+5597T>C (HOXC6)	ENSP00000423898.1:n.-73+5597T>C
ENST00000513209.1:c.166+14603T>C	ENSP00000476742.1:n.166+14603T>C
NM_006897.1:c.425T>C (HOXC9)	NP_008828.1:p.Met142Thr
NM_006897.2:c.425T>C (HOXC9)	NP_008828.1:p.Met142Thr
NM_006897.3:c.425T>C (HOXC9) MANE Select	NP_008828.1:p.Met142Thr