Canonical Allele Identifier: CA2639603063
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs1908172074
gnomAD v4: 17-72123440-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123440T>G , CM000679.2:g.72123440T>G GRCh38
NC_000017.10:g.70119581T>G , CM000679.1:g.70119581T>G GRCh37
NC_000017.9:g.67631176T>G NCBI36
NG_012490.1:g.7421T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.686-103T>G MANE Select ENSP00000245479.2:n.686-103T>G
ENST00000245479.2:c.686-103T>G ENSP00000245479.2:n.686-103T>G
NM_000346.3:c.686-103T>G NP_000337.1:n.686-103T>G
NM_000346.4:c.686-103T>G MANE Select NP_000337.1:n.686-103T>G
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