Canonical Allele Identifier: CA345866031
Gene: SOX11 HGNC NCBI

Linked Data

gnomAD v4: 2-5692864-A-G
MyVariant Identifiers: chr2:g.5832996A>G (hg19) chr2:g.5692864A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.5692864A>G , CM000664.2:g.5692864A>G GRCh38
NC_000002.11:g.5832996A>G , CM000664.1:g.5832996A>G GRCh37
NC_000002.10:g.5750447A>G NCBI36
NG_050751.1:g.5198A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000322002.5:c.143A>G MANE Select ENSP00000322568.3:p.His48Arg
ENST00000322002.4:c.143A>G ENSP00000322568.3:p.His48Arg
NM_003108.3:c.143A>G NP_003099.1:p.His48Arg
NM_003108.4:c.143A>G MANE Select NP_003099.1:p.His48Arg
Search 100 bp 5'
Search 100 bp 3'