Canonical Allele Identifier: CA10653492

Gene: SOX10 POLR2F

Linked Data

• ClinVar Variation Id: 341610
• ClinVar RCV Id: RCV000343997 ; RCV000389931
• dbSNP Id: rs377420828
• gnomAD v2: 22-38368790-C-A
• gnomAD v3: 22-37972783-C-A
• gnomAD v4: 22-37972783-C-A
• MyVariant Identifiers: chr22:g.38368790C>A (hg19) ; chr22:g.37972783C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37972783C>A , CM000684.2:g.37972783C>A	GRCh38
NC_000022.10:g.38368790C>A , CM000684.1:g.38368790C>A	GRCh37
NC_000022.9:g.36698736C>A	NCBI36
NG_007948.1:g.16750G>T , LRG_271:g.16750G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698177.1:c.*712G>T (SOX10)	ENSP00000513596.1:n.*712G>T
ENST00000690831.1:c.*1735G>T (SOX10)	ENSP00000510381.1:n.*1735G>T
ENST00000396884.8:c.*712G>T (SOX10) MANE Select	ENSP00000380093.2:n.*712G>T
ENST00000651746.1:c.166-1779G>T (SOX10)
ENST00000360880.6:c.*712G>T (SOX10)	ENSP00000354130.2:n.*712G>T
ENST00000396884.6:c.*712G>T (SOX10)	ENSP00000380093.2:n.*712G>T
ENST00000405557.5:c.293+5613C>A (POLR2F)	ENSP00000384112.1:n.293+5613C>A
ENST00000407936.5:c.293+5613C>A (POLR2F)	ENSP00000385725.1:n.293+5613C>A
ENST00000443002.5:c.*38+473C>A (POLR2F)	ENSP00000406826.1:n.*38+473C>A
ENST00000446929.5:c.482+1261G>T (SOX10)
NM_001301130.1:c.293+5613C>A (POLR2F)	NP_001288059.1:n.293+5613C>A
NM_001301131.1:c.293+5613C>A (POLR2F)	NP_001288060.1:n.293+5613C>A
NM_006941.3:c.*712G>T , LRG_271t1:c.*712G>T (SOX10)	NP_008872.1:n.*712G>T
XR_938243.1:n.158+473C>A
NM_001363825.1:c.*38+473C>A (POLR2F)	NP_001350754.1:n.*38+473C>A
NM_001301130.2:c.293+5613C>A (POLR2F)	NP_001288059.1:n.293+5613C>A
NM_001301131.2:c.293+5613C>A (POLR2F)	NP_001288060.1:n.293+5613C>A
NM_006941.4:c.*712G>T (SOX10) MANE Select	NP_008872.1:n.*712G>T