Canonical Allele Identifier: CA156405
Gene: SOX10 HGNC NCBI
POLR2F HGNC NCBI

Linked Data

ClinVar Variation Id: 133302
ClinVar RCV Id: RCV000119813
dbSNP Id: rs483353058

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.37973769G>C , CM000684.2:g.37973769G>C GRCh38
NC_000022.10:g.38369776G>C , CM000684.1:g.38369776G>C GRCh37
NC_000022.9:g.36699722G>C NCBI36
NG_007948.1:g.15764C>G , LRG_271:g.15764C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000698177.1:c.1343C>G (SOX10) ENSP00000513596.1:p.Ser448Ter
ENST00000690831.1:c.*749C>G (SOX10) ENSP00000510381.1:n.*749C>G
ENST00000396884.8:c.1127C>G (SOX10) MANE Select ENSP00000380093.2:p.Ser376Ter
ENST00000651746.1:c.166-2765C>G (SOX10)
ENST00000360880.6:c.1127C>G (SOX10) ENSP00000354130.2:p.Ser376Ter
ENST00000396884.6:c.1127C>G (SOX10) ENSP00000380093.2:p.Ser376Ter
ENST00000405557.5:c.293+6599G>C (POLR2F) ENSP00000384112.1:n.293+6599G>C
ENST00000407936.5:c.293+6599G>C (POLR2F) ENSP00000385725.1:n.293+6599G>C
ENST00000443002.5:c.*38+1459G>C (POLR2F) ENSP00000406826.1:n.*38+1459G>C
ENST00000446929.5:c.482+275C>G (SOX10)
NM_001301130.1:c.293+6599G>C (POLR2F) NP_001288059.1:n.293+6599G>C
NM_001301131.1:c.293+6599G>C (POLR2F) NP_001288060.1:n.293+6599G>C
NM_006941.3:c.1127C>G , LRG_271t1:c.1127C>G (SOX10) NP_008872.1:p.Ser376Ter
XR_938243.1:n.158+1459G>C
NM_001363825.1:c.*38+1459G>C (POLR2F) NP_001350754.1:n.*38+1459G>C
NM_001301130.2:c.293+6599G>C (POLR2F) NP_001288059.1:n.293+6599G>C
NM_001301131.2:c.293+6599G>C (POLR2F) NP_001288060.1:n.293+6599G>C
NM_006941.4:c.1127C>G (SOX10) MANE Select NP_008872.1:p.Ser376Ter