Canonical Allele Identifier: CA2569970525
Gene: SOX9 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72122398G>T , CM000679.2:g.72122398G>T GRCh38
NC_000017.10:g.70118539G>T , CM000679.1:g.70118539G>T GRCh37
NC_000017.9:g.67630134G>T NCBI36
NG_012490.1:g.6379G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.432-321G>T MANE Select ENSP00000245479.2:n.432-321G>T
ENST00000245479.2:c.432-321G>T ENSP00000245479.2:n.432-321G>T
NM_000346.3:c.432-321G>T NP_000337.1:n.432-321G>T
NM_000346.4:c.432-321G>T MANE Select NP_000337.1:n.432-321G>T
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