Canonical Allele Identifier: CA501432732
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs1356761828
gnomAD v4: 17-72123943-G-C
MyVariant Identifiers: chr17:g.70120084G>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123943G>C , CM000679.2:g.72123943G>C GRCh38
NC_000017.10:g.70120084G>C , CM000679.1:g.70120084G>C GRCh37
NC_000017.9:g.67631679G>C NCBI36
NG_012490.1:g.7924G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1086G>C MANE Select ENSP00000245479.2:p.Pro362=
ENST00000245479.2:c.1086G>C ENSP00000245479.2:p.Pro362=
NM_000346.3:c.1086G>C NP_000337.1:p.Pro362=
NM_000346.4:c.1086G>C MANE Select NP_000337.1:p.Pro362=
Search 100 bp 5'
Search 100 bp 3'