Canonical Allele Identifier: CA400867513
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs1409147937
gnomAD v2: 17-70120004-A-G
gnomAD v3: 17-72123863-A-G
gnomAD v4: 17-72123863-A-G
MyVariant Identifiers: chr17:g.70120004A>G (hg19) chr17:g.72123863A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123863A>G , CM000679.2:g.72123863A>G GRCh38
NC_000017.10:g.70120004A>G , CM000679.1:g.70120004A>G GRCh37
NC_000017.9:g.67631599A>G NCBI36
NG_012490.1:g.7844A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1006A>G MANE Select ENSP00000245479.2:p.Met336Val
ENST00000245479.2:c.1006A>G ENSP00000245479.2:p.Met336Val
NM_000346.3:c.1006A>G NP_000337.1:p.Met336Val
NM_000346.4:c.1006A>G MANE Select NP_000337.1:p.Met336Val
Search 100 bp 5'
Search 100 bp 3'