Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

Canonical Allele Identifier: CA400866943

Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs2143250573

gnomAD v4: 17-72123595-G-C

MyVariant Identifiers: chr17:g.70119736G>C (hg19) chr17:g.72123595G>C (hg38)

JSON-LD

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.72123595G>C , CM000679.2:g.72123595G>C	GRCh38
NC_000017.10:g.70119736G>C , CM000679.1:g.70119736G>C	GRCh37
NC_000017.9:g.67631331G>C	NCBI36
NG_012490.1:g.7576G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000245479.3:c.738G>C MANE Select	ENSP00000245479.2:p.Gln246His
ENST00000245479.2:c.738G>C	ENSP00000245479.2:p.Gln246His
NM_000346.3:c.738G>C	NP_000337.1:p.Gln246His
NM_000346.4:c.738G>C MANE Select	NP_000337.1:p.Gln246His

Search 100 bp 5'

Search 100 bp 3'