Canonical Allele Identifier: CA986061933
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs1908129407
gnomAD v3: 17-72122492-G-A
gnomAD v4: 17-72122492-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72122492G>A , CM000679.2:g.72122492G>A GRCh38
NC_000017.10:g.70118633G>A , CM000679.1:g.70118633G>A GRCh37
NC_000017.9:g.67630228G>A NCBI36
NG_012490.1:g.6473G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.432-227G>A MANE Select ENSP00000245479.2:n.432-227G>A
ENST00000245479.2:c.432-227G>A ENSP00000245479.2:n.432-227G>A
NM_000346.3:c.432-227G>A NP_000337.1:n.432-227G>A
NM_000346.4:c.432-227G>A MANE Select NP_000337.1:n.432-227G>A
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