Canonical Allele Identifier: CA400868332
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs2143257468
MyVariant Identifiers: chr17:g.70120382C>G (hg19) chr17:g.72124241C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72124241C>G , CM000679.2:g.72124241C>G GRCh38
NC_000017.10:g.70120382C>G , CM000679.1:g.70120382C>G GRCh37
NC_000017.9:g.67631977C>G NCBI36
NG_012490.1:g.8222C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1384C>G MANE Select ENSP00000245479.2:p.Leu462Val
ENST00000245479.2:c.1384C>G ENSP00000245479.2:p.Leu462Val
NM_000346.3:c.1384C>G NP_000337.1:p.Leu462Val
NM_000346.4:c.1384C>G MANE Select NP_000337.1:p.Leu462Val
Search 100 bp 5'
Search 100 bp 3'