Canonical Allele Identifier: CA935498314

Gene: SOX6 C11orf58

Linked Data

• dbSNP Id: rs1848383234
• gnomAD v3: 11-16735299-T-C
• gnomAD v4: 11-16735299-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.16735299T>C , CM000673.2:g.16735299T>C	GRCh38
NC_000011.9:g.16756846T>C , CM000673.1:g.16756846T>C	GRCh37
NC_000011.8:g.16713422T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524520.5:n.353+1040A>G (SOX6)
ENST00000525259.1:n.267+1040A>G (SOX6)
ENST00000527893.5:n.405-9302T>C (C11orf58)
ENST00000530378.5:c.-335+1040A>G (SOX6)	ENSP00000432577.1:n.-335+1040A>G
NM_001367872.1:c.-261+3126A>G (SOX6)	NP_001354801.1:n.-261+3126A>G