Canonical Allele Identifier: CA345865923
Gene: SOX11 HGNC NCBI

Linked Data

dbSNP Id: rs1665658432
gnomAD v4: 2-5692819-C-A
MyVariant Identifiers: chr2:g.5832951C>A (hg19) chr2:g.5692819C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.5692819C>A , CM000664.2:g.5692819C>A GRCh38
NC_000002.11:g.5832951C>A , CM000664.1:g.5832951C>A GRCh37
NC_000002.10:g.5750402C>A NCBI36
NG_050751.1:g.5153C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000322002.5:c.98C>A MANE Select ENSP00000322568.3:p.Ala33Asp
ENST00000322002.4:c.98C>A ENSP00000322568.3:p.Ala33Asp
NM_003108.3:c.98C>A NP_003099.1:p.Ala33Asp
NM_003108.4:c.98C>A MANE Select NP_003099.1:p.Ala33Asp
Search 100 bp 5'
Search 100 bp 3'