Canonical Allele Identifier: CA400867891
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs2143255277

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72124046A>C , CM000679.2:g.72124046A>C GRCh38
NC_000017.10:g.70120187A>C , CM000679.1:g.70120187A>C GRCh37
NC_000017.9:g.67631782A>C NCBI36
NG_012490.1:g.8027A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1189A>C MANE Select ENSP00000245479.2:p.Ile397Leu
ENST00000245479.2:c.1189A>C ENSP00000245479.2:p.Ile397Leu
NM_000346.3:c.1189A>C NP_000337.1:p.Ile397Leu
NM_000346.4:c.1189A>C MANE Select NP_000337.1:p.Ile397Leu