Canonical Allele Identifier: CA345865944
Gene: SOX11 HGNC NCBI

Linked Data

gnomAD v4: 2-5692829-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.5692829G>C , CM000664.2:g.5692829G>C GRCh38
NC_000002.11:g.5832961G>C , CM000664.1:g.5832961G>C GRCh37
NC_000002.10:g.5750412G>C NCBI36
NG_050751.1:g.5163G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000322002.5:c.108G>C MANE Select ENSP00000322568.3:p.Glu36Asp
ENST00000322002.4:c.108G>C ENSP00000322568.3:p.Glu36Asp
NM_003108.3:c.108G>C NP_003099.1:p.Glu36Asp
NM_003108.4:c.108G>C MANE Select NP_003099.1:p.Glu36Asp