Canonical Allele Identifier: CA627589962
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs1298346985
gnomAD v2: 17-70119671-T-C
gnomAD v4: 17-72123530-T-C
MyVariant Identifiers: chr17:g.70119671T>C (hg19) chr17:g.72123530T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123530T>C , CM000679.2:g.72123530T>C GRCh38
NC_000017.10:g.70119671T>C , CM000679.1:g.70119671T>C GRCh37
NC_000017.9:g.67631266T>C NCBI36
NG_012490.1:g.7511T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.686-13T>C MANE Select ENSP00000245479.2:n.686-13T>C
ENST00000245479.2:c.686-13T>C ENSP00000245479.2:n.686-13T>C
NM_000346.3:c.686-13T>C NP_000337.1:n.686-13T>C
NM_000346.4:c.686-13T>C MANE Select NP_000337.1:n.686-13T>C
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