Canonical Allele Identifier: CA2404602273
Community Standard Title: NM_006941.4(SOX10):c.752C= (p.Ser251=)
Gene: SOX10 HGNC NCBI
POLR2F HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.37974144G= , CM000684.2:g.37974144G= GRCh38
NC_000022.10:g.38370151G= , CM000684.1:g.38370151G= GRCh37
NC_000022.9:g.36700097G= NCBI36
NG_007948.1:g.15389C= , LRG_271:g.15389C=

Transcript Alleles

HGVS Amino-acid Change
NM_006941.4:c.752C= (SOX10) MANE Select NP_008872.1:p.Ser251=
ENST00000396884.8:c.752C= (SOX10) MANE Select ENSP00000380093.2:p.Ser251=
NM_001301130.1:c.293+6974G= (POLR2F) NP_001288059.1:n.293+6974G=
NM_001301130.2:c.293+6974G= (POLR2F) NP_001288059.1:n.293+6974G=
NM_001301131.1:c.293+6974G= (POLR2F) NP_001288060.1:n.293+6974G=
NM_001301131.2:c.293+6974G= (POLR2F) NP_001288060.1:n.293+6974G=
NM_001363825.1:c.*38+1834G= (POLR2F) NP_001350754.1:n.*38+1834G=
NM_006941.3:c.752C= , LRG_271t1:c.752C= (SOX10) NP_008872.1:p.Ser251=
ENST00000360880.6:c.752C= (SOX10) ENSP00000354130.2:p.Ser251=
ENST00000396884.6:c.752C= (SOX10) ENSP00000380093.2:p.Ser251=
ENST00000405557.5:c.293+6974G= (POLR2F) ENSP00000384112.1:n.293+6974G=
ENST00000407936.5:c.293+6974G= (POLR2F) ENSP00000385725.1:n.293+6974G=
ENST00000443002.5:c.*38+1834G= (POLR2F) ENSP00000406826.1:n.*38+1834G=
ENST00000446929.5:c.382C= (SOX10)
ENST00000651746.1:c.166-3140C= (SOX10)
ENST00000690831.1:c.*374C= (SOX10) ENSP00000510381.1:n.*374C=
ENST00000698177.1:c.968C= (SOX10) ENSP00000513596.1:p.Ser323=
XR_938243.1:n.158+1834G=