Canonical Allele Identifier: CA2273926283
Gene: SOX9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123467C= , CM000679.2:g.72123467C= GRCh38
NC_000017.10:g.70119608C= , CM000679.1:g.70119608C= GRCh37
NC_000017.9:g.67631203C= NCBI36
NG_012490.1:g.7448C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.686-76C= MANE Select ENSP00000245479.2:n.686-76C=
ENST00000245479.2:c.686-76C= ENSP00000245479.2:n.686-76C=
NM_000346.3:c.686-76C= NP_000337.1:n.686-76C=
NM_000346.4:c.686-76C= MANE Select NP_000337.1:n.686-76C=