Canonical Allele Identifier: CA400867560

Gene: SOX9

Linked Data

• dbSNP Id: rs1182134893
• gnomAD v3: 17-72123882-C-G
• gnomAD v4: 17-72123882-C-G
• MyVariant Identifiers: chr17:g.70120023C>G (hg19) ; chr17:g.72123882C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.72123882C>G , CM000679.2:g.72123882C>G	GRCh38
NC_000017.10:g.70120023C>G , CM000679.1:g.70120023C>G	GRCh37
NC_000017.9:g.67631618C>G	NCBI36
NG_012490.1:g.7863C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245479.3:c.1025C>G MANE Select	ENSP00000245479.2:p.Pro342Arg
ENST00000245479.2:c.1025C>G	ENSP00000245479.2:p.Pro342Arg
NM_000346.3:c.1025C>G	NP_000337.1:p.Pro342Arg
NM_000346.4:c.1025C>G MANE Select	NP_000337.1:p.Pro342Arg