Canonical Allele Identifier: CA10228540

Gene: SOX10 POLR2F

Linked Data

• ClinVar Variation Id: 2653128
• ClinVar RCV Id: RCV003437566
• dbSNP Id: rs537184160
• ExAC: 22:38369865 T / C
• gnomAD v2: 22-38369865-T-C
• gnomAD v3: 22-37973858-T-C
• gnomAD v4: 22-37973858-T-C
• MyVariant Identifiers: chr22:g.38369865T>C (hg19) ; chr22:g.37973858T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37973858T>C , CM000684.2:g.37973858T>C	GRCh38
NC_000022.10:g.38369865T>C , CM000684.1:g.38369865T>C	GRCh37
NC_000022.9:g.36699811T>C	NCBI36
NG_007948.1:g.15675A>G , LRG_271:g.15675A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698177.1:c.1254A>G (SOX10)	ENSP00000513596.1:p.Ser418=
ENST00000690831.1:c.*660A>G (SOX10)	ENSP00000510381.1:n.*660A>G
ENST00000396884.8:c.1038A>G (SOX10) MANE Select	ENSP00000380093.2:p.Ser346=
ENST00000651746.1:c.166-2854A>G (SOX10)
ENST00000360880.6:c.1038A>G (SOX10)	ENSP00000354130.2:p.Ser346=
ENST00000396884.6:c.1038A>G (SOX10)	ENSP00000380093.2:p.Ser346=
ENST00000405557.5:c.293+6688T>C (POLR2F)	ENSP00000384112.1:n.293+6688T>C
ENST00000407936.5:c.293+6688T>C (POLR2F)	ENSP00000385725.1:n.293+6688T>C
ENST00000443002.5:c.*38+1548T>C (POLR2F)	ENSP00000406826.1:n.*38+1548T>C
ENST00000446929.5:c.482+186A>G (SOX10)
NM_001301130.1:c.293+6688T>C (POLR2F)	NP_001288059.1:n.293+6688T>C
NM_001301131.1:c.293+6688T>C (POLR2F)	NP_001288060.1:n.293+6688T>C
NM_006941.3:c.1038A>G , LRG_271t1:c.1038A>G (SOX10)	NP_008872.1:p.Ser346=
XR_938243.1:n.158+1548T>C
NM_001363825.1:c.*38+1548T>C (POLR2F)	NP_001350754.1:n.*38+1548T>C
NM_001301130.2:c.293+6688T>C (POLR2F)	NP_001288059.1:n.293+6688T>C
NM_001301131.2:c.293+6688T>C (POLR2F)	NP_001288060.1:n.293+6688T>C
NM_006941.4:c.1038A>G (SOX10) MANE Select	NP_008872.1:p.Ser346=