Canonical Allele Identifier: CA118747
Gene: SOX10 HGNC NCBI
POLR2F HGNC NCBI

Linked Data

ClinVar Variation Id: 7393
ClinVar RCV Id: RCV000007817
dbSNP Id: rs74315514

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.37977999C>A , CM000684.2:g.37977999C>A GRCh38
NC_000022.10:g.38374006C>A , CM000684.1:g.38374006C>A GRCh37
NC_000022.9:g.36703952C>A NCBI36
NG_007948.1:g.11534G>T , LRG_271:g.11534G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000698177.1:c.781G>T (SOX10) ENSP00000513596.1:p.Glu261Ter
ENST00000690831.1:c.*187G>T (SOX10) ENSP00000510381.1:n.*187G>T
ENST00000396884.8:c.565G>T (SOX10) MANE Select ENSP00000380093.2:p.Glu189Ter
ENST00000651746.1:c.33G>T (SOX10)
ENST00000360880.6:c.565G>T (SOX10) ENSP00000354130.2:p.Glu189Ter
ENST00000396884.6:c.565G>T (SOX10) ENSP00000380093.2:p.Glu189Ter
ENST00000405557.5:c.293+10829C>A (POLR2F) ENSP00000384112.1:n.293+10829C>A
ENST00000407936.5:c.294-8155C>A (POLR2F) ENSP00000385725.1:n.294-8155C>A
ENST00000427770.1:c.565G>T (SOX10) ENSP00000414853.1:p.Glu189Ter
ENST00000443002.5:c.*38+5689C>A (POLR2F) ENSP00000406826.1:n.*38+5689C>A
ENST00000446929.5:c.195G>T (SOX10)
NM_001301130.1:c.294-8155C>A (POLR2F) NP_001288059.1:n.294-8155C>A
NM_001301131.1:c.293+10829C>A (POLR2F) NP_001288060.1:n.293+10829C>A
NM_006941.3:c.565G>T , LRG_271t1:c.565G>T (SOX10) NP_008872.1:p.Glu189Ter
XR_938243.1:n.158+5689C>A
NM_001363825.1:c.*38+5689C>A (POLR2F) NP_001350754.1:n.*38+5689C>A
NM_001301130.2:c.294-8155C>A (POLR2F) NP_001288059.1:n.294-8155C>A
NM_001301131.2:c.293+10829C>A (POLR2F) NP_001288060.1:n.293+10829C>A
NM_006941.4:c.565G>T (SOX10) MANE Select NP_008872.1:p.Glu189Ter