Canonical Allele Identifier: CA400866969
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs2143250706

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123606C>G , CM000679.2:g.72123606C>G GRCh38
NC_000017.10:g.70119747C>G , CM000679.1:g.70119747C>G GRCh37
NC_000017.9:g.67631342C>G NCBI36
NG_012490.1:g.7587C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000245479.3:c.749C>G MANE Select ENSP00000245479.2:p.Ala250Gly
ENST00000245479.2:c.749C>G ENSP00000245479.2:p.Ala250Gly
NM_000346.3:c.749C>G NP_000337.1:p.Ala250Gly
NM_000346.4:c.749C>G MANE Select NP_000337.1:p.Ala250Gly