Canonical Allele Identifier: CA2404606268
Gene: SOX10 HGNC NCBI
POLR2F HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.37983503G= , CM000684.2:g.37983503G= GRCh38
NC_000022.10:g.38379510G= , CM000684.1:g.38379510G= GRCh37
NC_000022.9:g.36709456G= NCBI36
NG_007948.1:g.6030C= , LRG_271:g.6030C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000698177.1:c.498C= (SOX10) ENSP00000513596.1:p.Val166=
ENST00000690831.1:c.282C= (SOX10) ENSP00000510381.1:p.Val94=
ENST00000396884.8:c.282C= (SOX10) MANE Select ENSP00000380093.2:p.Val94=
ENST00000652356.1:n.571C= (SOX10)
ENST00000360880.6:c.282C= (SOX10) ENSP00000354130.2:p.Val94=
ENST00000396884.6:c.282C= (SOX10) ENSP00000380093.2:p.Val94=
ENST00000405557.5:c.293+16333G= (POLR2F) ENSP00000384112.1:n.293+16333G=
ENST00000407936.5:c.294-2651G= (POLR2F) ENSP00000385725.1:n.294-2651G=
ENST00000427770.1:c.282C= (SOX10) ENSP00000414853.1:p.Val94=
ENST00000443002.5:c.*39-1549G= (POLR2F) ENSP00000406826.1:n.*39-1549G=
ENST00000470555.1:n.70+836C= (SOX10)
NM_001301130.1:c.294-2651G= (POLR2F) NP_001288059.1:n.294-2651G=
NM_001301131.1:c.293+16333G= (POLR2F) NP_001288060.1:n.293+16333G=
NM_006941.3:c.282C= , LRG_271t1:c.282C= (SOX10) NP_008872.1:p.Val94=
XR_938243.1:n.158+11193G=
NM_001363825.1:c.*38+11193G= (POLR2F) NP_001350754.1:n.*38+11193G=
NM_001301130.2:c.294-2651G= (POLR2F) NP_001288059.1:n.294-2651G=
NM_001301131.2:c.293+16333G= (POLR2F) NP_001288060.1:n.293+16333G=
NM_006941.4:c.282C= (SOX10) MANE Select NP_008872.1:p.Val94=