Canonical Allele Identifier: CA501351994
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs2143250482
gnomAD v4: 17-72123589-C-T
MyVariant Identifiers: chr17:g.70119730C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123589C>T , CM000679.2:g.72123589C>T GRCh38
NC_000017.10:g.70119730C>T , CM000679.1:g.70119730C>T GRCh37
NC_000017.9:g.67631325C>T NCBI36
NG_012490.1:g.7570C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.732C>T MANE Select ENSP00000245479.2:p.Asp244=
ENST00000245479.2:c.732C>T ENSP00000245479.2:p.Asp244=
NM_000346.3:c.732C>T NP_000337.1:p.Asp244=
NM_000346.4:c.732C>T MANE Select NP_000337.1:p.Asp244=
Search 100 bp 5'
Search 100 bp 3'