Canonical Allele Identifier: CA913185038
Gene: SOX9 HGNC NCBI

Linked Data

ClinVar Variation Id: 2518
ClinVar RCV Id: RCV000002625 RCV000002626
dbSNP Id: rs1598176785
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123960dup , CM000679.2:g.72123960dup GRCh38
NC_000017.10:g.70120101dup , CM000679.1:g.70120101dup GRCh37
NC_000017.9:g.67631696dup NCBI36
NG_012490.1:g.7941dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1103dup MANE Select ENSP00000245479.2:p.Gln369AlafsTer?
ENST00000245479.2:c.1103dup ENSP00000245479.2:p.Gln369AlafsTer?
NM_000346.3:c.1103dup NP_000337.1:p.Gln369AlafsTer?
NM_000346.4:c.1103dup MANE Select NP_000337.1:p.Gln369AlafsTer?
Search 100 bp 5'
Search 100 bp 3'