Canonical Allele Identifier: CA118779

Gene: SOX10 POLR2F

Linked Data

• ClinVar Variation Id: 7408
• ClinVar RCV Id: RCV000007833 ; RCV002273922
• dbSNP Id: rs121909117
• gnomAD v4: 22-37978094-G-A
• MyVariant Identifiers: chr22:g.38374101G>A (hg19) ; chr22:g.37978094G>A (hg38)
• PubMed: PMID:18348274

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37978094G>A , CM000684.2:g.37978094G>A	GRCh38
NC_000022.10:g.38374101G>A , CM000684.1:g.38374101G>A	GRCh37
NC_000022.9:g.36704047G>A	NCBI36
NG_007948.1:g.11439C>T , LRG_271:g.11439C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698177.1:c.686C>T (SOX10)	ENSP00000513596.1:p.Ala229Val
ENST00000690831.1:c.*92C>T (SOX10)	ENSP00000510381.1:n.*92C>T
ENST00000396884.8:c.470C>T (SOX10) MANE Select	ENSP00000380093.2:p.Ala157Val
ENST00000360880.6:c.470C>T (SOX10)	ENSP00000354130.2:p.Ala157Val
ENST00000396884.6:c.470C>T (SOX10)	ENSP00000380093.2:p.Ala157Val
ENST00000405557.5:c.293+10924G>A (POLR2F)	ENSP00000384112.1:n.293+10924G>A
ENST00000407936.5:c.294-8060G>A (POLR2F)	ENSP00000385725.1:n.294-8060G>A
ENST00000427770.1:c.470C>T (SOX10)	ENSP00000414853.1:p.Ala157Val
ENST00000443002.5:c.*38+5784G>A (POLR2F)	ENSP00000406826.1:n.*38+5784G>A
ENST00000446929.5:c.100C>T (SOX10)
ENST00000470555.1:n.112C>T (SOX10)
NM_001301130.1:c.294-8060G>A (POLR2F)	NP_001288059.1:n.294-8060G>A
NM_001301131.1:c.293+10924G>A (POLR2F)	NP_001288060.1:n.293+10924G>A
NM_006941.3:c.470C>T , LRG_271t1:c.470C>T (SOX10)	NP_008872.1:p.Ala157Val
XR_938243.1:n.158+5784G>A
NM_001363825.1:c.*38+5784G>A (POLR2F)	NP_001350754.1:n.*38+5784G>A
NM_001301130.2:c.294-8060G>A (POLR2F)	NP_001288059.1:n.294-8060G>A
NM_001301131.2:c.293+10924G>A (POLR2F)	NP_001288060.1:n.293+10924G>A
NM_006941.4:c.470C>T (SOX10) MANE Select	NP_008872.1:p.Ala157Val