Canonical Allele Identifier: CA8738936

Gene: SOX9

Linked Data

• ClinVar Variation Id: 287629
• ClinVar RCV Id: RCV000402339 ; RCV002059225
• dbSNP Id: rs144824678
• ExAC: 17:70118959 G / A
• gnomAD v2: 17-70118959-G-A
• gnomAD v3: 17-72122818-G-A
• gnomAD v4: 17-72122818-G-A
• MyVariant Identifiers: chr17:g.70118959G>A (hg19) ; chr17:g.72122818G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.72122818G>A , CM000679.2:g.72122818G>A	GRCh38
NC_000017.10:g.70118959G>A , CM000679.1:g.70118959G>A	GRCh37
NC_000017.9:g.67630554G>A	NCBI36
NG_012490.1:g.6799G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245479.3:c.531G>A MANE Select	ENSP00000245479.2:p.Arg177=
ENST00000245479.2:c.531G>A	ENSP00000245479.2:p.Arg177=
NM_000346.3:c.531G>A	NP_000337.1:p.Arg177=
NM_000346.4:c.531G>A MANE Select	NP_000337.1:p.Arg177=