Canonical Allele Identifier: CA501432839
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs1206962770
gnomAD v2: 17-70120138-C-T
gnomAD v4: 17-72123997-C-T
MyVariant Identifiers: chr17:g.70120138C>T (hg19) chr17:g.72123997C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123997C>T , CM000679.2:g.72123997C>T GRCh38
NC_000017.10:g.70120138C>T , CM000679.1:g.70120138C>T GRCh37
NC_000017.9:g.67631733C>T NCBI36
NG_012490.1:g.7978C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1140C>T MANE Select ENSP00000245479.2:p.His380=
ENST00000245479.2:c.1140C>T ENSP00000245479.2:p.His380=
NM_000346.3:c.1140C>T NP_000337.1:p.His380=
NM_000346.4:c.1140C>T MANE Select NP_000337.1:p.His380=
Search 100 bp 5'
Search 100 bp 3'