Canonical Allele Identifier: CA2639603025
Gene: SOX9 HGNC NCBI

Linked Data

gnomAD v4: 17-72123403-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123403C>G , CM000679.2:g.72123403C>G GRCh38
NC_000017.10:g.70119544C>G , CM000679.1:g.70119544C>G GRCh37
NC_000017.9:g.67631139C>G NCBI36
NG_012490.1:g.7384C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000245479.3:c.686-140C>G MANE Select ENSP00000245479.2:n.686-140C>G
ENST00000245479.2:c.686-140C>G ENSP00000245479.2:n.686-140C>G
NM_000346.3:c.686-140C>G NP_000337.1:n.686-140C>G
NM_000346.4:c.686-140C>G MANE Select NP_000337.1:n.686-140C>G
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