Canonical Allele Identifier: CA2404601911

Gene: SOX10 POLR2F

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37973631T= , CM000684.2:g.37973631T=	GRCh38
NC_000022.10:g.38369638T= , CM000684.1:g.38369638T=	GRCh37
NC_000022.9:g.36699584T=	NCBI36
NG_007948.1:g.15902A= , LRG_271:g.15902A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698177.1:c.1481A= (SOX10)	ENSP00000513596.1:p.Tyr494=
ENST00000690831.1:c.*887A= (SOX10)	ENSP00000510381.1:n.*887A=
ENST00000396884.8:c.1265A= (SOX10) MANE Select	ENSP00000380093.2:p.Tyr422=
ENST00000651746.1:c.166-2627A= (SOX10)
ENST00000360880.6:c.1265A= (SOX10)	ENSP00000354130.2:p.Tyr422=
ENST00000396884.6:c.1265A= (SOX10)	ENSP00000380093.2:p.Tyr422=
ENST00000405557.5:c.293+6461T= (POLR2F)	ENSP00000384112.1:n.293+6461T=
ENST00000407936.5:c.293+6461T= (POLR2F)	ENSP00000385725.1:n.293+6461T=
ENST00000443002.5:c.*38+1321T= (POLR2F)	ENSP00000406826.1:n.*38+1321T=
ENST00000446929.5:c.482+413A= (SOX10)
NM_001301130.1:c.293+6461T= (POLR2F)	NP_001288059.1:n.293+6461T=
NM_001301131.1:c.293+6461T= (POLR2F)	NP_001288060.1:n.293+6461T=
NM_006941.3:c.1265A= , LRG_271t1:c.1265A= (SOX10)	NP_008872.1:p.Tyr422=
XR_938243.1:n.158+1321T=
NM_001363825.1:c.*38+1321T= (POLR2F)	NP_001350754.1:n.*38+1321T=
NM_001301130.2:c.293+6461T= (POLR2F)	NP_001288059.1:n.293+6461T=
NM_001301131.2:c.293+6461T= (POLR2F)	NP_001288060.1:n.293+6461T=
NM_006941.4:c.1265A= (SOX10) MANE Select	NP_008872.1:p.Tyr422=