Canonical Allele Identifier: CA2273926253
Gene: SOX9 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123426G= , CM000679.2:g.72123426G= GRCh38
NC_000017.10:g.70119567G= , CM000679.1:g.70119567G= GRCh37
NC_000017.9:g.67631162G= NCBI36
NG_012490.1:g.7407G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.686-117G= MANE Select ENSP00000245479.2:n.686-117G=
ENST00000245479.2:c.686-117G= ENSP00000245479.2:n.686-117G=
NM_000346.3:c.686-117G= NP_000337.1:n.686-117G=
NM_000346.4:c.686-117G= MANE Select NP_000337.1:n.686-117G=
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