Canonical Allele Identifier: CA501352013
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs2143250793
gnomAD v4: 17-72123613-G-C
MyVariant Identifiers: chr17:g.70119754G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123613G>C , CM000679.2:g.72123613G>C GRCh38
NC_000017.10:g.70119754G>C , CM000679.1:g.70119754G>C GRCh37
NC_000017.9:g.67631349G>C NCBI36
NG_012490.1:g.7594G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.756G>C MANE Select ENSP00000245479.2:p.Leu252=
ENST00000245479.2:c.756G>C ENSP00000245479.2:p.Leu252=
NM_000346.3:c.756G>C NP_000337.1:p.Leu252=
NM_000346.4:c.756G>C MANE Select NP_000337.1:p.Leu252=
Search 100 bp 5'
Search 100 bp 3'