Canonical Allele Identifier: CA424762967
Gene: SOX11 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.5833027A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.5692895A>C , CM000664.2:g.5692895A>C GRCh38
NC_000002.11:g.5833027A>C , CM000664.1:g.5833027A>C GRCh37
NC_000002.10:g.5750478A>C NCBI36
NG_050751.1:g.5229A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000322002.5:c.174A>C MANE Select ENSP00000322568.3:p.Val58=
ENST00000322002.4:c.174A>C ENSP00000322568.3:p.Val58=
NM_003108.3:c.174A>C NP_003099.1:p.Val58=
NM_003108.4:c.174A>C MANE Select NP_003099.1:p.Val58=