Canonical Allele Identifier: CA324166956

Gene: SOX10 POLR2F

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37984420G>A , CM000684.2:g.37984420G>A	GRCh38
NC_000022.10:g.38380427G>A , CM000684.1:g.38380427G>A	GRCh37
NC_000022.9:g.36710373G>A	NCBI36
NG_007948.1:g.5113C>T , LRG_271:g.5113C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006941.4:c.-166C>T (SOX10) MANE Select	NP_008872.1:n.-166C>T
ENST00000396884.8:c.-166C>T (SOX10) MANE Select	ENSP00000380093.2:n.-166C>T
NM_001301130.1:c.294-1734G>A (POLR2F)	NP_001288059.1:n.294-1734G>A
NM_001301130.2:c.294-1734G>A (POLR2F)	NP_001288059.1:n.294-1734G>A
NM_001301131.1:c.293+17250G>A (POLR2F)	NP_001288060.1:n.293+17250G>A
NM_001301131.2:c.293+17250G>A (POLR2F)	NP_001288060.1:n.293+17250G>A
NM_001363825.1:c.*38+12110G>A (POLR2F)	NP_001350754.1:n.*38+12110G>A
NM_006941.3:c.-166C>T , LRG_271t1:c.-166C>T (SOX10)	NP_008872.1:n.-166C>T
ENST00000360880.6:c.-166C>T (SOX10)	ENSP00000354130.2:n.-166C>T
ENST00000396884.6:c.-166C>T (SOX10)	ENSP00000380093.2:n.-166C>T
ENST00000405557.5:c.293+17250G>A (POLR2F)	ENSP00000384112.1:n.293+17250G>A
ENST00000407936.5:c.294-1734G>A (POLR2F)	ENSP00000385725.1:n.294-1734G>A
ENST00000443002.5:c.*39-632G>A (POLR2F)	ENSP00000406826.1:n.*39-632G>A
ENST00000652356.1:n.124C>T (SOX10)
ENST00000690831.1:c.-306C>T (SOX10)	ENSP00000510381.1:n.-306C>T
ENST00000698177.1:c.51C>T (SOX10)	ENSP00000513596.1:p.Ser17=
XR_938243.1:n.158+12110G>A