Canonical Allele Identifier: CA400868299
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs2143257252
MyVariant Identifiers: chr17:g.70120364G>A (hg19) chr17:g.72124223G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72124223G>A , CM000679.2:g.72124223G>A GRCh38
NC_000017.10:g.70120364G>A , CM000679.1:g.70120364G>A GRCh37
NC_000017.9:g.67631959G>A NCBI36
NG_012490.1:g.8204G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1366G>A MANE Select ENSP00000245479.2:p.Ala456Thr
ENST00000245479.2:c.1366G>A ENSP00000245479.2:p.Ala456Thr
NM_000346.3:c.1366G>A NP_000337.1:p.Ala456Thr
NM_000346.4:c.1366G>A MANE Select NP_000337.1:p.Ala456Thr
Search 100 bp 5'
Search 100 bp 3'