Canonical Allele Identifier: CA2404602768

Gene: SOX10 POLR2F

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37975389G= , CM000684.2:g.37975389G=	GRCh38
NC_000022.10:g.38371396G= , CM000684.1:g.38371396G=	GRCh37
NC_000022.9:g.36701342G=	NCBI36
NG_007948.1:g.14144C= , LRG_271:g.14144C=

Transcript Alleles

HGVS	Amino-acid Change
NM_006941.4:c.698-1191C= (SOX10) MANE Select	NP_008872.1:n.698-1191C=
ENST00000396884.8:c.698-1191C= (SOX10) MANE Select	ENSP00000380093.2:n.698-1191C=
NM_001301130.1:c.293+8219G= (POLR2F)	NP_001288059.1:n.293+8219G=
NM_001301130.2:c.293+8219G= (POLR2F)	NP_001288059.1:n.293+8219G=
NM_001301131.1:c.293+8219G= (POLR2F)	NP_001288060.1:n.293+8219G=
NM_001301131.2:c.293+8219G= (POLR2F)	NP_001288060.1:n.293+8219G=
NM_001363825.1:c.*38+3079G= (POLR2F)	NP_001350754.1:n.*38+3079G=
NM_006941.3:c.698-1191C= , LRG_271t1:c.698-1191C= (SOX10)	NP_008872.1:n.698-1191C=
ENST00000360880.6:c.698-1191C= (SOX10)	ENSP00000354130.2:n.698-1191C=
ENST00000396884.6:c.698-1191C= (SOX10)	ENSP00000380093.2:n.698-1191C=
ENST00000405557.5:c.293+8219G= (POLR2F)	ENSP00000384112.1:n.293+8219G=
ENST00000407936.5:c.293+8219G= (POLR2F)	ENSP00000385725.1:n.293+8219G=
ENST00000443002.5:c.*38+3079G= (POLR2F)	ENSP00000406826.1:n.*38+3079G=
ENST00000446929.5:c.328-1191C= (SOX10)
ENST00000651746.1:c.165+2478C= (SOX10)
ENST00000690831.1:c.*320-1191C= (SOX10)	ENSP00000510381.1:n.*320-1191C=
ENST00000698177.1:c.914-1191C= (SOX10)	ENSP00000513596.1:n.914-1191C=
XR_938243.1:n.158+3079G=