Canonical Allele Identifier: CA400866933

Gene: SOX9

Linked Data

• dbSNP Id: rs375127115
• gnomAD v3: 17-72123590-G-C
• gnomAD v4: 17-72123590-G-C
• MyVariant Identifiers: chr17:g.70119731G>C (hg19) ; chr17:g.72123590G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.72123590G>C , CM000679.2:g.72123590G>C	GRCh38
NC_000017.10:g.70119731G>C , CM000679.1:g.70119731G>C	GRCh37
NC_000017.9:g.67631326G>C	NCBI36
NG_012490.1:g.7571G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245479.3:c.733G>C MANE Select	ENSP00000245479.2:p.Val245Leu
ENST00000245479.2:c.733G>C	ENSP00000245479.2:p.Val245Leu
NM_000346.3:c.733G>C	NP_000337.1:p.Val245Leu
NM_000346.4:c.733G>C MANE Select	NP_000337.1:p.Val245Leu