Canonical Allele Identifier: CA10228667

Gene: SOX10 POLR2F

Linked Data

• ClinVar Variation Id: 341620
• ClinVar RCV Id: RCV000287308 ; RCV000335304 ; RCV000876764
• dbSNP Id: rs199703563
• ExAC: 22:38374064 C / T
• gnomAD v2: 22-38374064-C-T
• gnomAD v3: 22-37978057-C-T
• gnomAD v4: 22-37978057-C-T
• MyVariant Identifiers: chr22:g.38374064C>T (hg19) ; chr22:g.37978057C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37978057C>T , CM000684.2:g.37978057C>T	GRCh38
NC_000022.10:g.38374064C>T , CM000684.1:g.38374064C>T	GRCh37
NC_000022.9:g.36704010C>T	NCBI36
NG_007948.1:g.11476G>A , LRG_271:g.11476G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000698177.1:c.723G>A (SOX10)	ENSP00000513596.1:p.Pro241=
ENST00000690831.1:c.*129G>A (SOX10)	ENSP00000510381.1:n.*129G>A
ENST00000396884.8:c.507G>A (SOX10) MANE Select	ENSP00000380093.2:p.Pro169=
ENST00000360880.6:c.507G>A (SOX10)	ENSP00000354130.2:p.Pro169=
ENST00000396884.6:c.507G>A (SOX10)	ENSP00000380093.2:p.Pro169=
ENST00000405557.5:c.293+10887C>T (POLR2F)	ENSP00000384112.1:n.293+10887C>T
ENST00000407936.5:c.294-8097C>T (POLR2F)	ENSP00000385725.1:n.294-8097C>T
ENST00000427770.1:c.507G>A (SOX10)	ENSP00000414853.1:p.Pro169=
ENST00000443002.5:c.*38+5747C>T (POLR2F)	ENSP00000406826.1:n.*38+5747C>T
ENST00000446929.5:c.137G>A (SOX10)
NM_001301130.1:c.294-8097C>T (POLR2F)	NP_001288059.1:n.294-8097C>T
NM_001301131.1:c.293+10887C>T (POLR2F)	NP_001288060.1:n.293+10887C>T
NM_006941.3:c.507G>A , LRG_271t1:c.507G>A (SOX10)	NP_008872.1:p.Pro169=
XR_938243.1:n.158+5747C>T
NM_001363825.1:c.*38+5747C>T (POLR2F)	NP_001350754.1:n.*38+5747C>T
NM_001301130.2:c.294-8097C>T (POLR2F)	NP_001288059.1:n.294-8097C>T
NM_001301131.2:c.293+10887C>T (POLR2F)	NP_001288060.1:n.293+10887C>T
NM_006941.4:c.507G>A (SOX10) MANE Select	NP_008872.1:p.Pro169=