Canonical Allele Identifier: CA400867085

Gene: SOX9

Linked Data

• MyVariant Identifiers: chr17:g.70119807T>A (hg19) ; chr17:g.72123666T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.72123666T>A , CM000679.2:g.72123666T>A	GRCh38
NC_000017.10:g.70119807T>A , CM000679.1:g.70119807T>A	GRCh37
NC_000017.9:g.67631402T>A	NCBI36
NG_012490.1:g.7647T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245479.3:c.809T>A MANE Select	ENSP00000245479.2:p.Phe270Tyr
ENST00000245479.2:c.809T>A	ENSP00000245479.2:p.Phe270Tyr
NM_000346.3:c.809T>A	NP_000337.1:p.Phe270Tyr
NM_000346.4:c.809T>A MANE Select	NP_000337.1:p.Phe270Tyr