Canonical Allele Identifier: CA400866854
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs2143250076
MyVariant Identifiers: chr17:g.70119692C>T (hg19) chr17:g.72123551C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123551C>T , CM000679.2:g.72123551C>T GRCh38
NC_000017.10:g.70119692C>T , CM000679.1:g.70119692C>T GRCh37
NC_000017.9:g.67631287C>T NCBI36
NG_012490.1:g.7532C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.694C>T MANE Select ENSP00000245479.2:p.Gln232Ter
ENST00000245479.2:c.694C>T ENSP00000245479.2:p.Gln232Ter
NM_000346.3:c.694C>T NP_000337.1:p.Gln232Ter
NM_000346.4:c.694C>T MANE Select NP_000337.1:p.Gln232Ter
Search 100 bp 5'
Search 100 bp 3'