Canonical Allele Identifier: CA10228723

Gene: SOX10 POLR2F

Linked Data

• ClinVar Variation Id: 452278
• ClinVar RCV Id: RCV000519667 ; RCV000767097 ; RCV001149119 ; RCV001149120 ; RCV004541634
• dbSNP Id: rs747377284
• ExAC: 22:38379661 G / C
• gnomAD v2: 22-38379661-G-C
• gnomAD v3: 22-37983654-G-C
• gnomAD v4: 22-37983654-G-C
• MyVariant Identifiers: chr22:g.38379661G>C (hg19) ; chr22:g.37983654G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37983654G>C , CM000684.2:g.37983654G>C	GRCh38
NC_000022.10:g.38379661G>C , CM000684.1:g.38379661G>C	GRCh37
NC_000022.9:g.36709607G>C	NCBI36
NG_007948.1:g.5879C>G , LRG_271:g.5879C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698177.1:c.347C>G (SOX10)	ENSP00000513596.1:p.Ala116Gly
ENST00000690831.1:c.131C>G (SOX10)	ENSP00000510381.1:p.Ala44Gly
ENST00000396884.8:c.131C>G (SOX10) MANE Select	ENSP00000380093.2:p.Ala44Gly
ENST00000652356.1:n.420C>G (SOX10)
ENST00000360880.6:c.131C>G (SOX10)	ENSP00000354130.2:p.Ala44Gly
ENST00000396884.6:c.131C>G (SOX10)	ENSP00000380093.2:p.Ala44Gly
ENST00000405557.5:c.293+16484G>C (POLR2F)	ENSP00000384112.1:n.293+16484G>C
ENST00000407936.5:c.294-2500G>C (POLR2F)	ENSP00000385725.1:n.294-2500G>C
ENST00000427770.1:c.131C>G (SOX10)	ENSP00000414853.1:p.Ala44Gly
ENST00000443002.5:c.*39-1398G>C (POLR2F)	ENSP00000406826.1:n.*39-1398G>C
ENST00000470555.1:n.70+685C>G (SOX10)
NM_001301130.1:c.294-2500G>C (POLR2F)	NP_001288059.1:n.294-2500G>C
NM_001301131.1:c.293+16484G>C (POLR2F)	NP_001288060.1:n.293+16484G>C
NM_006941.3:c.131C>G , LRG_271t1:c.131C>G (SOX10)	NP_008872.1:p.Ala44Gly
XR_938243.1:n.158+11344G>C
NM_001363825.1:c.*38+11344G>C (POLR2F)	NP_001350754.1:n.*38+11344G>C
NM_001301130.2:c.294-2500G>C (POLR2F)	NP_001288059.1:n.294-2500G>C
NM_001301131.2:c.293+16484G>C (POLR2F)	NP_001288060.1:n.293+16484G>C
NM_006941.4:c.131C>G (SOX10) MANE Select	NP_008872.1:p.Ala44Gly