Canonical Allele Identifier: CA10228642

Gene: SOX10 POLR2F

Linked Data

• dbSNP Id: rs771720673
• ExAC: 22:38373958 C / T
• gnomAD v2: 22-38373958-C-T
• gnomAD v4: 22-37977951-C-T
• MyVariant Identifiers: chr22:g.38373958C>T (hg19) ; chr22:g.37977951C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37977951C>T , CM000684.2:g.37977951C>T	GRCh38
NC_000022.10:g.38373958C>T , CM000684.1:g.38373958C>T	GRCh37
NC_000022.9:g.36703904C>T	NCBI36
NG_007948.1:g.11582G>A , LRG_271:g.11582G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000698177.1:c.829G>A (SOX10)	ENSP00000513596.1:p.Ala277Thr
ENST00000690831.1:c.*235G>A (SOX10)	ENSP00000510381.1:n.*235G>A
ENST00000396884.8:c.613G>A (SOX10) MANE Select	ENSP00000380093.2:p.Ala205Thr
ENST00000651746.1:c.81G>A (SOX10)
ENST00000360880.6:c.613G>A (SOX10)	ENSP00000354130.2:p.Ala205Thr
ENST00000396884.6:c.613G>A (SOX10)	ENSP00000380093.2:p.Ala205Thr
ENST00000405557.5:c.293+10781C>T (POLR2F)	ENSP00000384112.1:n.293+10781C>T
ENST00000407936.5:c.294-8203C>T (POLR2F)	ENSP00000385725.1:n.294-8203C>T
ENST00000427770.1:c.613G>A (SOX10)	ENSP00000414853.1:p.Ala205Thr
ENST00000443002.5:c.*38+5641C>T (POLR2F)	ENSP00000406826.1:n.*38+5641C>T
ENST00000446929.5:c.243G>A (SOX10)
NM_001301130.1:c.294-8203C>T (POLR2F)	NP_001288059.1:n.294-8203C>T
NM_001301131.1:c.293+10781C>T (POLR2F)	NP_001288060.1:n.293+10781C>T
NM_006941.3:c.613G>A , LRG_271t1:c.613G>A (SOX10)	NP_008872.1:p.Ala205Thr
XR_938243.1:n.158+5641C>T
NM_001363825.1:c.*38+5641C>T (POLR2F)	NP_001350754.1:n.*38+5641C>T
NM_001301130.2:c.294-8203C>T (POLR2F)	NP_001288059.1:n.294-8203C>T
NM_001301131.2:c.293+10781C>T (POLR2F)	NP_001288060.1:n.293+10781C>T
NM_006941.4:c.613G>A (SOX10) MANE Select	NP_008872.1:p.Ala205Thr