Canonical Allele Identifier: CA6604780

Gene: HOXC9 HOXC6

Linked Data

• dbSNP Id: rs753505808
• ExAC: 12:54394504 G / A
• gnomAD v2: 12-54394504-G-A
• gnomAD v4: 12-54000720-G-A
• MyVariant Identifiers: chr12:g.54394504G>A (hg19) ; chr12:g.54000720G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.54000720G>A , CM000674.2:g.54000720G>A	GRCh38
NC_000012.11:g.54394504G>A , CM000674.1:g.54394504G>A	GRCh37
NC_000012.10:g.52680771G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303450.5:c.532G>A (HOXC9) MANE Select	ENSP00000302836.4:p.Asp178Asn
ENST00000303450.4:c.532G>A (HOXC9)	ENSP00000302836.4:p.Asp178Asn
ENST00000504315.1:c.-193+9906G>A (HOXC6)	ENSP00000424124.1:n.-193+9906G>A
ENST00000504557.1:n.123-1710G>A (HOXC9)
ENST00000508190.1:c.532G>A (HOXC9)	ENSP00000423861.1:p.Asp178Asn
ENST00000509328.1:c.-73+5704G>A (HOXC6)	ENSP00000423898.1:n.-73+5704G>A
ENST00000513209.1:c.166+14710G>A	ENSP00000476742.1:n.166+14710G>A
NM_006897.1:c.532G>A (HOXC9)	NP_008828.1:p.Asp178Asn
NM_006897.2:c.532G>A (HOXC9)	NP_008828.1:p.Asp178Asn
NM_006897.3:c.532G>A (HOXC9) MANE Select	NP_008828.1:p.Asp178Asn