Canonical Allele Identifier: CA400866582
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs1436474238
COSMIC: COSM6474889
MyVariant Identifiers: chr17:g.70118998G>T (hg19) chr17:g.72122857G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72122857G>T , CM000679.2:g.72122857G>T GRCh38
NC_000017.10:g.70118998G>T , CM000679.1:g.70118998G>T GRCh37
NC_000017.9:g.67630593G>T NCBI36
NG_012490.1:g.6838G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.570G>T MANE Select ENSP00000245479.2:p.Glu190Asp
ENST00000245479.2:c.570G>T ENSP00000245479.2:p.Glu190Asp
NM_000346.3:c.570G>T NP_000337.1:p.Glu190Asp
NM_000346.4:c.570G>T MANE Select NP_000337.1:p.Glu190Asp
Search 100 bp 5'
Search 100 bp 3'