Canonical Allele Identifier: CA411493663

Gene: SOX10 POLR2F

Linked Data

• dbSNP Id: rs1374911711
• gnomAD v2: 22-38370067-C-T
• gnomAD v4: 22-37974060-C-T
• MyVariant Identifiers: chr22:g.38370067C>T (hg19) ; chr22:g.37974060C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37974060C>T , CM000684.2:g.37974060C>T	GRCh38
NC_000022.10:g.38370067C>T , CM000684.1:g.38370067C>T	GRCh37
NC_000022.9:g.36700013C>T	NCBI36
NG_007948.1:g.15473G>A , LRG_271:g.15473G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698177.1:c.1052G>A (SOX10)	ENSP00000513596.1:p.Gly351Asp
ENST00000690831.1:c.*458G>A (SOX10)	ENSP00000510381.1:n.*458G>A
ENST00000396884.8:c.836G>A (SOX10) MANE Select	ENSP00000380093.2:p.Gly279Asp
ENST00000651746.1:c.166-3056G>A (SOX10)
ENST00000360880.6:c.836G>A (SOX10)	ENSP00000354130.2:p.Gly279Asp
ENST00000396884.6:c.836G>A (SOX10)	ENSP00000380093.2:p.Gly279Asp
ENST00000405557.5:c.293+6890C>T (POLR2F)	ENSP00000384112.1:n.293+6890C>T
ENST00000407936.5:c.293+6890C>T (POLR2F)	ENSP00000385725.1:n.293+6890C>T
ENST00000443002.5:c.*38+1750C>T (POLR2F)	ENSP00000406826.1:n.*38+1750C>T
ENST00000446929.5:c.466G>A (SOX10)
NM_001301130.1:c.293+6890C>T (POLR2F)	NP_001288059.1:n.293+6890C>T
NM_001301131.1:c.293+6890C>T (POLR2F)	NP_001288060.1:n.293+6890C>T
NM_006941.3:c.836G>A , LRG_271t1:c.836G>A (SOX10)	NP_008872.1:p.Gly279Asp
XR_938243.1:n.158+1750C>T
NM_001363825.1:c.*38+1750C>T (POLR2F)	NP_001350754.1:n.*38+1750C>T
NM_001301130.2:c.293+6890C>T (POLR2F)	NP_001288059.1:n.293+6890C>T
NM_001301131.2:c.293+6890C>T (POLR2F)	NP_001288060.1:n.293+6890C>T
NM_006941.4:c.836G>A (SOX10) MANE Select	NP_008872.1:p.Gly279Asp