Canonical Allele Identifier: CA2639602847
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs2143244635
gnomAD v4: 17-72122683-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72122683T>A , CM000679.2:g.72122683T>A GRCh38
NC_000017.10:g.70118824T>A , CM000679.1:g.70118824T>A GRCh37
NC_000017.9:g.67630419T>A NCBI36
NG_012490.1:g.6664T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.432-36T>A MANE Select ENSP00000245479.2:n.432-36T>A
ENST00000245479.2:c.432-36T>A ENSP00000245479.2:n.432-36T>A
NM_000346.3:c.432-36T>A NP_000337.1:n.432-36T>A
NM_000346.4:c.432-36T>A MANE Select NP_000337.1:n.432-36T>A
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