Canonical Allele Identifier: CA2639603075
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs2143249436
gnomAD v4: 17-72123460-A-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123460A>T , CM000679.2:g.72123460A>T GRCh38
NC_000017.10:g.70119601A>T , CM000679.1:g.70119601A>T GRCh37
NC_000017.9:g.67631196A>T NCBI36
NG_012490.1:g.7441A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.686-83A>T MANE Select ENSP00000245479.2:n.686-83A>T
ENST00000245479.2:c.686-83A>T ENSP00000245479.2:n.686-83A>T
NM_000346.3:c.686-83A>T NP_000337.1:n.686-83A>T
NM_000346.4:c.686-83A>T MANE Select NP_000337.1:n.686-83A>T
Search 100 bp 5'
Search 100 bp 3'