Canonical Allele Identifier: CA2404603941
Gene: SOX10 HGNC NCBI
POLR2F HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.37978250G= , CM000684.2:g.37978250G= GRCh38
NC_000022.10:g.38374257G= , CM000684.1:g.38374257G= GRCh37
NC_000022.9:g.36704203G= NCBI36
NG_007948.1:g.11283C= , LRG_271:g.11283C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000698177.1:c.645-115C= (SOX10) ENSP00000513596.1:n.645-115C=
ENST00000690831.1:c.*51-115C= (SOX10) ENSP00000510381.1:n.*51-115C=
ENST00000396884.8:c.429-115C= (SOX10) MANE Select ENSP00000380093.2:n.429-115C=
ENST00000360880.6:c.429-115C= (SOX10) ENSP00000354130.2:n.429-115C=
ENST00000396884.6:c.429-115C= (SOX10) ENSP00000380093.2:n.429-115C=
ENST00000405557.5:c.293+11080G= (POLR2F) ENSP00000384112.1:n.293+11080G=
ENST00000407936.5:c.294-7904G= (POLR2F) ENSP00000385725.1:n.294-7904G=
ENST00000427770.1:c.429-115C= (SOX10) ENSP00000414853.1:n.429-115C=
ENST00000443002.5:c.*38+5940G= (POLR2F) ENSP00000406826.1:n.*38+5940G=
ENST00000446929.5:c.59-115C= (SOX10)
ENST00000470555.1:n.71-115C= (SOX10)
NM_001301130.1:c.294-7904G= (POLR2F) NP_001288059.1:n.294-7904G=
NM_001301131.1:c.293+11080G= (POLR2F) NP_001288060.1:n.293+11080G=
NM_006941.3:c.429-115C= , LRG_271t1:c.429-115C= (SOX10) NP_008872.1:n.429-115C=
XR_938243.1:n.158+5940G=
NM_001363825.1:c.*38+5940G= (POLR2F) NP_001350754.1:n.*38+5940G=
NM_001301130.2:c.294-7904G= (POLR2F) NP_001288059.1:n.294-7904G=
NM_001301131.2:c.293+11080G= (POLR2F) NP_001288060.1:n.293+11080G=
NM_006941.4:c.429-115C= (SOX10) MANE Select NP_008872.1:n.429-115C=