Canonical Allele Identifier: CA400866534
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs2143246201
MyVariant Identifiers: chr17:g.70118975A>T (hg19) chr17:g.72122834A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72122834A>T , CM000679.2:g.72122834A>T GRCh38
NC_000017.10:g.70118975A>T , CM000679.1:g.70118975A>T GRCh37
NC_000017.9:g.67630570A>T NCBI36
NG_012490.1:g.6815A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.547A>T MANE Select ENSP00000245479.2:p.Lys183Ter
ENST00000245479.2:c.547A>T ENSP00000245479.2:p.Lys183Ter
NM_000346.3:c.547A>T NP_000337.1:p.Lys183Ter
NM_000346.4:c.547A>T MANE Select NP_000337.1:p.Lys183Ter
Search 100 bp 5'
Search 100 bp 3'