Canonical Allele Identifier: CA400867142
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs2143251433

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123692A>T , CM000679.2:g.72123692A>T GRCh38
NC_000017.10:g.70119833A>T , CM000679.1:g.70119833A>T GRCh37
NC_000017.9:g.67631428A>T NCBI36
NG_012490.1:g.7673A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.835A>T MANE Select ENSP00000245479.2:p.Ser279Cys
ENST00000245479.2:c.835A>T ENSP00000245479.2:p.Ser279Cys
NM_000346.3:c.835A>T NP_000337.1:p.Ser279Cys
NM_000346.4:c.835A>T MANE Select NP_000337.1:p.Ser279Cys