Canonical Allele Identifier: CA2273925944
Gene: SOX9 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72122859A= , CM000679.2:g.72122859A= GRCh38
NC_000017.10:g.70119000A= , CM000679.1:g.70119000A= GRCh37
NC_000017.9:g.67630595A= NCBI36
NG_012490.1:g.6840A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.572A= MANE Select ENSP00000245479.2:p.Glu191=
ENST00000245479.2:c.572A= ENSP00000245479.2:p.Glu191=
NM_000346.3:c.572A= NP_000337.1:p.Glu191=
NM_000346.4:c.572A= MANE Select NP_000337.1:p.Glu191=
Search 100 bp 5'
Search 100 bp 3'