Canonical Allele Identifier: CA293783074
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs902198039
gnomAD v3: 17-72123407-G-A
gnomAD v4: 17-72123407-G-A
MyVariant Identifiers: chr17:g.70119548G>A (hg19) chr17:g.72123407G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123407G>A , CM000679.2:g.72123407G>A GRCh38
NC_000017.10:g.70119548G>A , CM000679.1:g.70119548G>A GRCh37
NC_000017.9:g.67631143G>A NCBI36
NG_012490.1:g.7388G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.686-136G>A MANE Select ENSP00000245479.2:n.686-136G>A
ENST00000245479.2:c.686-136G>A ENSP00000245479.2:n.686-136G>A
NM_000346.3:c.686-136G>A NP_000337.1:n.686-136G>A
NM_000346.4:c.686-136G>A MANE Select NP_000337.1:n.686-136G>A
Search 100 bp 5'
Search 100 bp 3'