Canonical Allele Identifier: CA2404603735
Gene: SOX10 HGNC NCBI
POLR2F HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.37977769A= , CM000684.2:g.37977769A= GRCh38
NC_000022.10:g.38373776A= , CM000684.1:g.38373776A= GRCh37
NC_000022.9:g.36703722A= NCBI36
NG_007948.1:g.11764T= , LRG_271:g.11764T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000698177.1:c.913+98T= (SOX10) ENSP00000513596.1:n.913+98T=
ENST00000690831.1:c.*319+98T= (SOX10) ENSP00000510381.1:n.*319+98T=
ENST00000396884.8:c.697+98T= (SOX10) MANE Select ENSP00000380093.2:n.697+98T=
ENST00000651746.1:c.165+98T= (SOX10)
ENST00000360880.6:c.697+98T= (SOX10) ENSP00000354130.2:n.697+98T=
ENST00000396884.6:c.697+98T= (SOX10) ENSP00000380093.2:n.697+98T=
ENST00000405557.5:c.293+10599A= (POLR2F) ENSP00000384112.1:n.293+10599A=
ENST00000407936.5:c.294-8385A= (POLR2F) ENSP00000385725.1:n.294-8385A=
ENST00000443002.5:c.*38+5459A= (POLR2F) ENSP00000406826.1:n.*38+5459A=
ENST00000446929.5:c.327+98T= (SOX10)
NM_001301130.1:c.294-8385A= (POLR2F) NP_001288059.1:n.294-8385A=
NM_001301131.1:c.293+10599A= (POLR2F) NP_001288060.1:n.293+10599A=
NM_006941.3:c.697+98T= , LRG_271t1:c.697+98T= (SOX10) NP_008872.1:n.697+98T=
XR_938243.1:n.158+5459A=
NM_001363825.1:c.*38+5459A= (POLR2F) NP_001350754.1:n.*38+5459A=
NM_001301130.2:c.294-8385A= (POLR2F) NP_001288059.1:n.294-8385A=
NM_001301131.2:c.293+10599A= (POLR2F) NP_001288060.1:n.293+10599A=
NM_006941.4:c.697+98T= (SOX10) MANE Select NP_008872.1:n.697+98T=