Canonical Allele Identifier: CA2576374473
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs2143244668
gnomAD v4: 17-72122688-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72122688T>C , CM000679.2:g.72122688T>C GRCh38
NC_000017.10:g.70118829T>C , CM000679.1:g.70118829T>C GRCh37
NC_000017.9:g.67630424T>C NCBI36
NG_012490.1:g.6669T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000245479.3:c.432-31T>C MANE Select ENSP00000245479.2:n.432-31T>C
ENST00000245479.2:c.432-31T>C ENSP00000245479.2:n.432-31T>C
NM_000346.3:c.432-31T>C NP_000337.1:n.432-31T>C
NM_000346.4:c.432-31T>C MANE Select NP_000337.1:n.432-31T>C
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