Canonical Allele Identifier: CA501432989
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs2143257493
MyVariant Identifiers: chr17:g.70120384C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72124243C>G , CM000679.2:g.72124243C>G GRCh38
NC_000017.10:g.70120384C>G , CM000679.1:g.70120384C>G GRCh37
NC_000017.9:g.67631979C>G NCBI36
NG_012490.1:g.8224C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.1386C>G MANE Select ENSP00000245479.2:p.Leu462=
ENST00000245479.2:c.1386C>G ENSP00000245479.2:p.Leu462=
NM_000346.3:c.1386C>G NP_000337.1:p.Leu462=
NM_000346.4:c.1386C>G MANE Select NP_000337.1:p.Leu462=
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Search 100 bp 3'