Canonical Allele Identifier: CA400866386

Gene: SOX9

Linked Data

• dbSNP Id: rs1057518419
• MyVariant Identifiers: chr17:g.70118907G>T (hg19) ; chr17:g.72122766G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.72122766G>T , CM000679.2:g.72122766G>T	GRCh38
NC_000017.10:g.70118907G>T , CM000679.1:g.70118907G>T	GRCh37
NC_000017.9:g.67630502G>T	NCBI36
NG_012490.1:g.6747G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000245479.3:c.479G>T MANE Select	ENSP00000245479.2:p.Arg160Leu
ENST00000245479.2:c.479G>T	ENSP00000245479.2:p.Arg160Leu
NM_000346.3:c.479G>T	NP_000337.1:p.Arg160Leu
NM_000346.4:c.479G>T MANE Select	NP_000337.1:p.Arg160Leu