Canonical Allele Identifier: CA411493710

Gene: SOX10 POLR2F

Linked Data

• gnomAD v4: 22-37974063-A-G
• MyVariant Identifiers: chr22:g.38370070A>G (hg19) ; chr22:g.37974063A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37974063A>G , CM000684.2:g.37974063A>G	GRCh38
NC_000022.10:g.38370070A>G , CM000684.1:g.38370070A>G	GRCh37
NC_000022.9:g.36700016A>G	NCBI36
NG_007948.1:g.15470T>C , LRG_271:g.15470T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698177.1:c.1049T>C (SOX10)	ENSP00000513596.1:p.Ile350Thr
ENST00000690831.1:c.*455T>C (SOX10)	ENSP00000510381.1:n.*455T>C
ENST00000396884.8:c.833T>C (SOX10) MANE Select	ENSP00000380093.2:p.Ile278Thr
ENST00000651746.1:c.166-3059T>C (SOX10)
ENST00000360880.6:c.833T>C (SOX10)	ENSP00000354130.2:p.Ile278Thr
ENST00000396884.6:c.833T>C (SOX10)	ENSP00000380093.2:p.Ile278Thr
ENST00000405557.5:c.293+6893A>G (POLR2F)	ENSP00000384112.1:n.293+6893A>G
ENST00000407936.5:c.293+6893A>G (POLR2F)	ENSP00000385725.1:n.293+6893A>G
ENST00000443002.5:c.*38+1753A>G (POLR2F)	ENSP00000406826.1:n.*38+1753A>G
ENST00000446929.5:c.463T>C (SOX10)
NM_001301130.1:c.293+6893A>G (POLR2F)	NP_001288059.1:n.293+6893A>G
NM_001301131.1:c.293+6893A>G (POLR2F)	NP_001288060.1:n.293+6893A>G
NM_006941.3:c.833T>C , LRG_271t1:c.833T>C (SOX10)	NP_008872.1:p.Ile278Thr
XR_938243.1:n.158+1753A>G
NM_001363825.1:c.*38+1753A>G (POLR2F)	NP_001350754.1:n.*38+1753A>G
NM_001301130.2:c.293+6893A>G (POLR2F)	NP_001288059.1:n.293+6893A>G
NM_001301131.2:c.293+6893A>G (POLR2F)	NP_001288060.1:n.293+6893A>G
NM_006941.4:c.833T>C (SOX10) MANE Select	NP_008872.1:p.Ile278Thr