Canonical Allele Identifier: CA1517808
Gene: SOX11 HGNC NCBI

Linked Data

dbSNP Id: rs780576917
ExAC: 2:5833033 C / T
gnomAD v2: 2-5833033-C-T
gnomAD v4: 2-5692901-C-T
MyVariant Identifiers: chr2:g.5833033C>T (hg19) chr2:g.5692901C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.5692901C>T , CM000664.2:g.5692901C>T GRCh38
NC_000002.11:g.5833033C>T , CM000664.1:g.5833033C>T GRCh37
NC_000002.10:g.5750484C>T NCBI36
NG_050751.1:g.5235C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000322002.5:c.180C>T MANE Select ENSP00000322568.3:p.Ser60=
ENST00000322002.4:c.180C>T ENSP00000322568.3:p.Ser60=
NM_003108.3:c.180C>T NP_003099.1:p.Ser60=
NM_003108.4:c.180C>T MANE Select NP_003099.1:p.Ser60=
Search 100 bp 5'
Search 100 bp 3'