Canonical Allele Identifier: CA480091582
Gene: HOXC9 HGNC NCBI
HOXC6 HGNC NCBI

Linked Data

gnomAD v4: 12-54000719-G-A
MyVariant Identifiers: chr12:g.54394503G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.54000719G>A , CM000674.2:g.54000719G>A GRCh38
NC_000012.11:g.54394503G>A , CM000674.1:g.54394503G>A GRCh37
NC_000012.10:g.52680770G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000303450.5:c.531G>A (HOXC9) MANE Select ENSP00000302836.4:p.Leu177=
ENST00000303450.4:c.531G>A (HOXC9) ENSP00000302836.4:p.Leu177=
ENST00000504315.1:c.-193+9905G>A (HOXC6) ENSP00000424124.1:n.-193+9905G>A
ENST00000504557.1:n.123-1711G>A (HOXC9)
ENST00000508190.1:c.531G>A (HOXC9) ENSP00000423861.1:p.Leu177=
ENST00000509328.1:c.-73+5703G>A (HOXC6) ENSP00000423898.1:n.-73+5703G>A
ENST00000513209.1:c.166+14709G>A ENSP00000476742.1:n.166+14709G>A
NM_006897.1:c.531G>A (HOXC9) NP_008828.1:p.Leu177=
NM_006897.2:c.531G>A (HOXC9) NP_008828.1:p.Leu177=
NM_006897.3:c.531G>A (HOXC9) MANE Select NP_008828.1:p.Leu177=
Search 100 bp 5'
Search 100 bp 3'