Canonical Allele Identifier: CA10228709

Gene: SOX10 POLR2F

Linked Data

• dbSNP Id: rs759674899
• ExAC: 22:38379583 A / G
• gnomAD v2: 22-38379583-A-G
• COSMIC: COSM1227163
• MyVariant Identifiers: chr22:g.38379583A>G (hg19) ; chr22:g.37983576A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37983576A>G , CM000684.2:g.37983576A>G	GRCh38
NC_000022.10:g.38379583A>G , CM000684.1:g.38379583A>G	GRCh37
NC_000022.9:g.36709529A>G	NCBI36
NG_007948.1:g.5957T>C , LRG_271:g.5957T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000698177.1:c.425T>C (SOX10)	ENSP00000513596.1:p.Val142Ala
ENST00000690831.1:c.209T>C (SOX10)	ENSP00000510381.1:p.Val70Ala
ENST00000396884.8:c.209T>C (SOX10) MANE Select	ENSP00000380093.2:p.Val70Ala
ENST00000652356.1:n.498T>C (SOX10)
ENST00000360880.6:c.209T>C (SOX10)	ENSP00000354130.2:p.Val70Ala
ENST00000396884.6:c.209T>C (SOX10)	ENSP00000380093.2:p.Val70Ala
ENST00000405557.5:c.293+16406A>G (POLR2F)	ENSP00000384112.1:n.293+16406A>G
ENST00000407936.5:c.294-2578A>G (POLR2F)	ENSP00000385725.1:n.294-2578A>G
ENST00000427770.1:c.209T>C (SOX10)	ENSP00000414853.1:p.Val70Ala
ENST00000443002.5:c.*39-1476A>G (POLR2F)	ENSP00000406826.1:n.*39-1476A>G
ENST00000470555.1:n.70+763T>C (SOX10)
NM_001301130.1:c.294-2578A>G (POLR2F)	NP_001288059.1:n.294-2578A>G
NM_001301131.1:c.293+16406A>G (POLR2F)	NP_001288060.1:n.293+16406A>G
NM_006941.3:c.209T>C , LRG_271t1:c.209T>C (SOX10)	NP_008872.1:p.Val70Ala
XR_938243.1:n.158+11266A>G
NM_001363825.1:c.*38+11266A>G (POLR2F)	NP_001350754.1:n.*38+11266A>G
NM_001301130.2:c.294-2578A>G (POLR2F)	NP_001288059.1:n.294-2578A>G
NM_001301131.2:c.293+16406A>G (POLR2F)	NP_001288060.1:n.293+16406A>G
NM_006941.4:c.209T>C (SOX10) MANE Select	NP_008872.1:p.Val70Ala