Canonical Allele Identifier: CA218510266

Gene: SOX6 C11orf58

Linked Data

• dbSNP Id: rs566011824
• gnomAD v2: 11-16756920-T-C
• gnomAD v3: 11-16735373-T-C
• gnomAD v4: 11-16735373-T-C
• MyVariant Identifiers: chr11:g.16756920T>C (hg19) ; chr11:g.16735373T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.16735373T>C , CM000673.2:g.16735373T>C	GRCh38
NC_000011.9:g.16756920T>C , CM000673.1:g.16756920T>C	GRCh37
NC_000011.8:g.16713496T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524520.5:n.353+966A>G (SOX6)
ENST00000525259.1:n.267+966A>G (SOX6)
ENST00000527893.5:n.405-9228T>C (C11orf58)
ENST00000530378.5:c.-335+966A>G (SOX6)	ENSP00000432577.1:n.-335+966A>G
NM_001367872.1:c.-261+3052A>G (SOX6)	NP_001354801.1:n.-261+3052A>G