Canonical Allele Identifier: CA8739079

Gene: SOX9

Linked Data

• ClinVar Variation Id: 618379
• ClinVar RCV Id: RCV001811465 ; RCV002279516 ; RCV002067190 ; RCV003928257
• dbSNP Id: rs768818630
• ExAC: 17:70120031 C / T
• gnomAD v2: 17-70120031-C-T
• gnomAD v3: 17-72123890-C-T
• gnomAD v4: 17-72123890-C-T
• MyVariant Identifiers: chr17:g.70120031C>T (hg19) ; chr17:g.72123890C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.72123890C>T , CM000679.2:g.72123890C>T	GRCh38
NC_000017.10:g.70120031C>T , CM000679.1:g.70120031C>T	GRCh37
NC_000017.9:g.67631626C>T	NCBI36
NG_012490.1:g.7871C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245479.3:c.1033C>T MANE Select	ENSP00000245479.2:p.Pro345Ser
ENST00000245479.2:c.1033C>T	ENSP00000245479.2:p.Pro345Ser
NM_000346.3:c.1033C>T	NP_000337.1:p.Pro345Ser
NM_000346.4:c.1033C>T MANE Select	NP_000337.1:p.Pro345Ser