Canonical Allele Identifier: CA674178328
Gene: SOX6 HGNC NCBI
C11orf58 HGNC NCBI

Linked Data

dbSNP Id: rs1255403764
gnomAD v3: 11-16735458-T-A
gnomAD v4: 11-16735458-T-A
MyVariant Identifiers: chr11:g.16757005T>A (hg19) chr11:g.16735458T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.16735458T>A , CM000673.2:g.16735458T>A GRCh38
NC_000011.9:g.16757005T>A , CM000673.1:g.16757005T>A GRCh37
NC_000011.8:g.16713581T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000524520.5:n.353+881A>T (SOX6)
ENST00000525259.1:n.267+881A>T (SOX6)
ENST00000527893.5:n.405-9143T>A (C11orf58)
ENST00000530378.5:c.-335+881A>T (SOX6) ENSP00000432577.1:n.-335+881A>T
NM_001367872.1:c.-261+2967A>T (SOX6) NP_001354801.1:n.-261+2967A>T
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