Canonical Allele Identifier: CA8738930

Gene: SOX9

Linked Data

• ClinVar Variation Id: 387272
• ClinVar RCV Id: RCV000425980 ; RCV002525432
• dbSNP Id: rs370267426
• ExAC: 17:70118908 G / A
• gnomAD v2: 17-70118908-G-A
• gnomAD v3: 17-72122767-G-A
• gnomAD v4: 17-72122767-G-A
• MyVariant Identifiers: chr17:g.70118908G>A (hg19) ; chr17:g.72122767G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.72122767G>A , CM000679.2:g.72122767G>A	GRCh38
NC_000017.10:g.70118908G>A , CM000679.1:g.70118908G>A	GRCh37
NC_000017.9:g.67630503G>A	NCBI36
NG_012490.1:g.6748G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245479.3:c.480G>A MANE Select	ENSP00000245479.2:p.Arg160=
ENST00000245479.2:c.480G>A	ENSP00000245479.2:p.Arg160=
NM_000346.3:c.480G>A	NP_000337.1:p.Arg160=
NM_000346.4:c.480G>A MANE Select	NP_000337.1:p.Arg160=