Canonical Allele Identifier: CA293783099
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs568684959
gnomAD v2: 17-70119561-T-G
gnomAD v3: 17-72123420-T-G
gnomAD v4: 17-72123420-T-G
MyVariant Identifiers: chr17:g.70119561T>G (hg19) chr17:g.72123420T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123420T>G , CM000679.2:g.72123420T>G GRCh38
NC_000017.10:g.70119561T>G , CM000679.1:g.70119561T>G GRCh37
NC_000017.9:g.67631156T>G NCBI36
NG_012490.1:g.7401T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000245479.3:c.686-123T>G MANE Select ENSP00000245479.2:n.686-123T>G
ENST00000245479.2:c.686-123T>G ENSP00000245479.2:n.686-123T>G
NM_000346.3:c.686-123T>G NP_000337.1:n.686-123T>G
NM_000346.4:c.686-123T>G MANE Select NP_000337.1:n.686-123T>G
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