Canonical Allele Identifier: CA774799515
Gene: SOX9 HGNC NCBI

Linked Data

dbSNP Id: rs1173917204
gnomAD v3: 17-72122396-C-T
gnomAD v4: 17-72122396-C-T
MyVariant Identifiers: chr17:g.70118537C>T (hg19) chr17:g.72122396C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.72122396C>T , CM000679.2:g.72122396C>T GRCh38
NC_000017.10:g.70118537C>T , CM000679.1:g.70118537C>T GRCh37
NC_000017.9:g.67630132C>T NCBI36
NG_012490.1:g.6377C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000245479.3:c.432-323C>T MANE Select ENSP00000245479.2:n.432-323C>T
ENST00000245479.2:c.432-323C>T ENSP00000245479.2:n.432-323C>T
NM_000346.3:c.432-323C>T NP_000337.1:n.432-323C>T
NM_000346.4:c.432-323C>T MANE Select NP_000337.1:n.432-323C>T
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