Canonical Allele Identifier: CA424762819
Gene: SOX11 HGNC NCBI

Linked Data

gnomAD v4: 2-5693318-G-A
MyVariant Identifiers: chr2:g.5833450G>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.5693318G>A , CM000664.2:g.5693318G>A GRCh38
NC_000002.11:g.5833450G>A , CM000664.1:g.5833450G>A GRCh37
NC_000002.10:g.5750901G>A NCBI36
NG_050751.1:g.5652G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000322002.5:c.597G>A MANE Select ENSP00000322568.3:p.Val199=
ENST00000322002.4:c.597G>A ENSP00000322568.3:p.Val199=
NM_003108.3:c.597G>A NP_003099.1:p.Val199=
NM_003108.4:c.597G>A MANE Select NP_003099.1:p.Val199=
Search 100 bp 5'
Search 100 bp 3'