Canonical Allele Identifier: CA400866983
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs2143250799

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123614A>G , CM000679.2:g.72123614A>G GRCh38
NC_000017.10:g.70119755A>G , CM000679.1:g.70119755A>G GRCh37
NC_000017.9:g.67631350A>G NCBI36
NG_012490.1:g.7595A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.757A>G MANE Select ENSP00000245479.2:p.Lys253Glu
ENST00000245479.2:c.757A>G ENSP00000245479.2:p.Lys253Glu
NM_000346.3:c.757A>G NP_000337.1:p.Lys253Glu
NM_000346.4:c.757A>G MANE Select NP_000337.1:p.Lys253Glu