Canonical Allele Identifier: CA480091584

Linked Data

MyVariant Identifiers: chr12:g.54394503G>C (hg19)

Genomic Alleles

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

Transcript Alleles

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