Canonical Allele Identifier: CA2570191070

Gene: SOX9

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.72122340T>G , CM000679.2:g.72122340T>G	GRCh38
NC_000017.10:g.70118481T>G , CM000679.1:g.70118481T>G	GRCh37
NC_000017.9:g.67630076T>G	NCBI36
NG_012490.1:g.6321T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245479.3:c.432-379T>G MANE Select	ENSP00000245479.2:n.432-379T>G
ENST00000245479.2:c.432-379T>G	ENSP00000245479.2:n.432-379T>G
NM_000346.3:c.432-379T>G	NP_000337.1:n.432-379T>G
NM_000346.4:c.432-379T>G MANE Select	NP_000337.1:n.432-379T>G