Canonical Allele Identifier: CA774799632
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs1405668987
gnomAD v3: 17-72122685-T-C
gnomAD v4: 17-72122685-T-C
MyVariant Identifiers: chr17:g.70118826T>C (hg19) chr17:g.72122685T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72122685T>C , CM000679.2:g.72122685T>C GRCh38
NC_000017.10:g.70118826T>C , CM000679.1:g.70118826T>C GRCh37
NC_000017.9:g.67630421T>C NCBI36
NG_012490.1:g.6666T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000245479.3:c.432-34T>C MANE Select ENSP00000245479.2:n.432-34T>C
ENST00000245479.2:c.432-34T>C ENSP00000245479.2:n.432-34T>C
NM_000346.3:c.432-34T>C NP_000337.1:n.432-34T>C
NM_000346.4:c.432-34T>C MANE Select NP_000337.1:n.432-34T>C
Search 100 bp 5'
Search 100 bp 3'