Canonical Allele Identifier: CA627589930
Gene: SOX9 HGNC NCBI

Linked Data

gnomAD v2: 17-70119542-T-C
gnomAD v4: 17-72123401-T-C
MyVariant Identifiers: chr17:g.70119542T>C (hg19) chr17:g.72123401T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72123401T>C , CM000679.2:g.72123401T>C GRCh38
NC_000017.10:g.70119542T>C , CM000679.1:g.70119542T>C GRCh37
NC_000017.9:g.67631137T>C NCBI36
NG_012490.1:g.7382T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000245479.3:c.686-142T>C MANE Select ENSP00000245479.2:n.686-142T>C
ENST00000245479.2:c.686-142T>C ENSP00000245479.2:n.686-142T>C
NM_000346.3:c.686-142T>C NP_000337.1:n.686-142T>C
NM_000346.4:c.686-142T>C MANE Select NP_000337.1:n.686-142T>C
Search 100 bp 5'
Search 100 bp 3'