Canonical Allele Identifier: CA218510260
Gene: SOX6 HGNC NCBI
C11orf58 HGNC NCBI

Linked Data

dbSNP Id: rs72862543
gnomAD v2: 11-16756875-C-T
gnomAD v3: 11-16735328-C-T
gnomAD v4: 11-16735328-C-T
MyVariant Identifiers: chr11:g.16756875C>T (hg19) chr11:g.16735328C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.16735328C>T , CM000673.2:g.16735328C>T GRCh38
NC_000011.9:g.16756875C>T , CM000673.1:g.16756875C>T GRCh37
NC_000011.8:g.16713451C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000524520.5:n.353+1011G>A (SOX6)
ENST00000525259.1:n.267+1011G>A (SOX6)
ENST00000527893.5:n.405-9273C>T (C11orf58)
ENST00000530378.5:c.-335+1011G>A (SOX6) ENSP00000432577.1:n.-335+1011G>A
NM_001367872.1:c.-261+3097G>A (SOX6) NP_001354801.1:n.-261+3097G>A
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