Canonical Allele Identifier: CA385116049

Gene: HOXC9 HOXC6

Linked Data

• dbSNP Id: rs772449508
• gnomAD v4: 12-54000618-G-A
• MyVariant Identifiers: chr12:g.54394402G>A (hg19) ; chr12:g.54000618G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.54000618G>A , CM000674.2:g.54000618G>A	GRCh38
NC_000012.11:g.54394402G>A , CM000674.1:g.54394402G>A	GRCh37
NC_000012.10:g.52680669G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303450.5:c.430G>A (HOXC9) MANE Select	ENSP00000302836.4:p.Gly144Ser
ENST00000303450.4:c.430G>A (HOXC9)	ENSP00000302836.4:p.Gly144Ser
ENST00000504315.1:c.-193+9804G>A (HOXC6)	ENSP00000424124.1:n.-193+9804G>A
ENST00000504557.1:n.123-1812G>A (HOXC9)
ENST00000508190.1:c.430G>A (HOXC9)	ENSP00000423861.1:p.Gly144Ser
ENST00000509328.1:c.-73+5602G>A (HOXC6)	ENSP00000423898.1:n.-73+5602G>A
ENST00000513209.1:c.166+14608G>A	ENSP00000476742.1:n.166+14608G>A
NM_006897.1:c.430G>A (HOXC9)	NP_008828.1:p.Gly144Ser
NM_006897.2:c.430G>A (HOXC9)	NP_008828.1:p.Gly144Ser
NM_006897.3:c.430G>A (HOXC9) MANE Select	NP_008828.1:p.Gly144Ser