Canonical Allele Identifier: CA400866489

Gene: SOX9

Linked Data

• dbSNP Id: rs2143245974
• MyVariant Identifiers: chr17:g.70118952A>T (hg19) ; chr17:g.72122811A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.72122811A>T , CM000679.2:g.72122811A>T	GRCh38
NC_000017.10:g.70118952A>T , CM000679.1:g.70118952A>T	GRCh37
NC_000017.9:g.67630547A>T	NCBI36
NG_012490.1:g.6792A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245479.3:c.524A>T MANE Select	ENSP00000245479.2:p.Gln175Leu
ENST00000245479.2:c.524A>T	ENSP00000245479.2:p.Gln175Leu
NM_000346.3:c.524A>T	NP_000337.1:p.Gln175Leu
NM_000346.4:c.524A>T MANE Select	NP_000337.1:p.Gln175Leu