Canonical Allele Identifier: CA8738935
Gene: SOX9 HGNC NCBI

Linked Data

ClinVar Variation Id: 2727497
ClinVar RCV Id: RCV003499689
dbSNP Id: rs753404357
ExAC: 17:70118956 G / T
gnomAD v2: 17-70118956-G-T
gnomAD v3: 17-72122815-G-T
gnomAD v4: 17-72122815-G-T
MyVariant Identifiers: chr17:g.70118956G>T (hg19) chr17:g.72122815G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72122815G>T , CM000679.2:g.72122815G>T GRCh38
NC_000017.10:g.70118956G>T , CM000679.1:g.70118956G>T GRCh37
NC_000017.9:g.67630551G>T NCBI36
NG_012490.1:g.6796G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.528G>T MANE Select ENSP00000245479.2:p.Pro176=
ENST00000245479.2:c.528G>T ENSP00000245479.2:p.Pro176=
NM_000346.3:c.528G>T NP_000337.1:p.Pro176=
NM_000346.4:c.528G>T MANE Select NP_000337.1:p.Pro176=
Search 100 bp 5'
Search 100 bp 3'