Canonical Allele Identifier: CA400868311
Gene: SOX9 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.70120371A>T (hg19) chr17:g.72124230A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72124230A>T , CM000679.2:g.72124230A>T GRCh38
NC_000017.10:g.70120371A>T , CM000679.1:g.70120371A>T GRCh37
NC_000017.9:g.67631966A>T NCBI36
NG_012490.1:g.8211A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1373A>T MANE Select ENSP00000245479.2:p.Gln458Leu
ENST00000245479.2:c.1373A>T ENSP00000245479.2:p.Gln458Leu
NM_000346.3:c.1373A>T NP_000337.1:p.Gln458Leu
NM_000346.4:c.1373A>T MANE Select NP_000337.1:p.Gln458Leu
Search 100 bp 5'
Search 100 bp 3'