Canonical Allele Identifier: CA400866389

Gene: SOX9

Linked Data

• MyVariant Identifiers: chr17:g.70118910T>A (hg19) ; chr17:g.72122769T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.72122769T>A , CM000679.2:g.72122769T>A	GRCh38
NC_000017.10:g.70118910T>A , CM000679.1:g.70118910T>A	GRCh37
NC_000017.9:g.67630505T>A	NCBI36
NG_012490.1:g.6750T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245479.3:c.482T>A MANE Select	ENSP00000245479.2:p.Leu161Gln
ENST00000245479.2:c.482T>A	ENSP00000245479.2:p.Leu161Gln
NM_000346.3:c.482T>A	NP_000337.1:p.Leu161Gln
NM_000346.4:c.482T>A MANE Select	NP_000337.1:p.Leu161Gln