Canonical Allele Identifier: CA8738944
Gene: SOX9 HGNC NCBI

Linked Data

ClinVar Variation Id: 2917159
ClinVar RCV Id: RCV003604021
dbSNP Id: rs749381187
ExAC: 17:70118983 G / A
gnomAD v2: 17-70118983-G-A
gnomAD v4: 17-72122842-G-A
MyVariant Identifiers: chr17:g.70118983G>A (hg19) chr17:g.72122842G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72122842G>A , CM000679.2:g.72122842G>A GRCh38
NC_000017.10:g.70118983G>A , CM000679.1:g.70118983G>A GRCh37
NC_000017.9:g.67630578G>A NCBI36
NG_012490.1:g.6823G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.555G>A MANE Select ENSP00000245479.2:p.Gly185=
ENST00000245479.2:c.555G>A ENSP00000245479.2:p.Gly185=
NM_000346.3:c.555G>A NP_000337.1:p.Gly185=
NM_000346.4:c.555G>A MANE Select NP_000337.1:p.Gly185=
Search 100 bp 5'
Search 100 bp 3'