Canonical Allele Identifier: CA8738937
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs764972567
ExAC: 17:70118960 C / A
gnomAD v2: 17-70118960-C-A
gnomAD v4: 17-72122819-C-A
MyVariant Identifiers: chr17:g.70118960C>A (hg19) chr17:g.72122819C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72122819C>A , CM000679.2:g.72122819C>A GRCh38
NC_000017.10:g.70118960C>A , CM000679.1:g.70118960C>A GRCh37
NC_000017.9:g.67630555C>A NCBI36
NG_012490.1:g.6800C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.532C>A MANE Select ENSP00000245479.2:p.Arg178=
ENST00000245479.2:c.532C>A ENSP00000245479.2:p.Arg178=
NM_000346.3:c.532C>A NP_000337.1:p.Arg178=
NM_000346.4:c.532C>A MANE Select NP_000337.1:p.Arg178=
Search 100 bp 5'
Search 100 bp 3'