Canonical Allele Identifier: CA400866883
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs2143250214
MyVariant Identifiers: chr17:g.70119707C>G (hg19) chr17:g.72123566C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123566C>G , CM000679.2:g.72123566C>G GRCh38
NC_000017.10:g.70119707C>G , CM000679.1:g.70119707C>G GRCh37
NC_000017.9:g.67631302C>G NCBI36
NG_012490.1:g.7547C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.709C>G MANE Select ENSP00000245479.2:p.Pro237Ala
ENST00000245479.2:c.709C>G ENSP00000245479.2:p.Pro237Ala
NM_000346.3:c.709C>G NP_000337.1:p.Pro237Ala
NM_000346.4:c.709C>G MANE Select NP_000337.1:p.Pro237Ala
Search 100 bp 5'
Search 100 bp 3'