Canonical Allele Identifier: CA2404603770
Gene: SOX10 HGNC NCBI
POLR2F HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.37977860C= , CM000684.2:g.37977860C= GRCh38
NC_000022.10:g.38373867C= , CM000684.1:g.38373867C= GRCh37
NC_000022.9:g.36703813C= NCBI36
NG_007948.1:g.11673G= , LRG_271:g.11673G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000698177.1:c.913+7G= (SOX10) ENSP00000513596.1:n.913+7G=
ENST00000690831.1:c.*319+7G= (SOX10) ENSP00000510381.1:n.*319+7G=
ENST00000396884.8:c.697+7G= (SOX10) MANE Select ENSP00000380093.2:n.697+7G=
ENST00000651746.1:c.165+7G= (SOX10)
ENST00000360880.6:c.697+7G= (SOX10) ENSP00000354130.2:n.697+7G=
ENST00000396884.6:c.697+7G= (SOX10) ENSP00000380093.2:n.697+7G=
ENST00000405557.5:c.293+10690C= (POLR2F) ENSP00000384112.1:n.293+10690C=
ENST00000407936.5:c.294-8294C= (POLR2F) ENSP00000385725.1:n.294-8294C=
ENST00000443002.5:c.*38+5550C= (POLR2F) ENSP00000406826.1:n.*38+5550C=
ENST00000446929.5:c.327+7G= (SOX10)
NM_001301130.1:c.294-8294C= (POLR2F) NP_001288059.1:n.294-8294C=
NM_001301131.1:c.293+10690C= (POLR2F) NP_001288060.1:n.293+10690C=
NM_006941.3:c.697+7G= , LRG_271t1:c.697+7G= (SOX10) NP_008872.1:n.697+7G=
XR_938243.1:n.158+5550C=
NM_001363825.1:c.*38+5550C= (POLR2F) NP_001350754.1:n.*38+5550C=
NM_001301130.2:c.294-8294C= (POLR2F) NP_001288059.1:n.294-8294C=
NM_001301131.2:c.293+10690C= (POLR2F) NP_001288060.1:n.293+10690C=
NM_006941.4:c.697+7G= (SOX10) MANE Select NP_008872.1:n.697+7G=