Canonical Allele Identifier: CA986080524
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs1908170192
gnomAD v3: 17-72123399-T-C
gnomAD v4: 17-72123399-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123399T>C , CM000679.2:g.72123399T>C GRCh38
NC_000017.10:g.70119540T>C , CM000679.1:g.70119540T>C GRCh37
NC_000017.9:g.67631135T>C NCBI36
NG_012490.1:g.7380T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.686-144T>C MANE Select ENSP00000245479.2:n.686-144T>C
ENST00000245479.2:c.686-144T>C ENSP00000245479.2:n.686-144T>C
NM_000346.3:c.686-144T>C NP_000337.1:n.686-144T>C
NM_000346.4:c.686-144T>C MANE Select NP_000337.1:n.686-144T>C
Search 100 bp 5'
Search 100 bp 3'