Canonical Allele Identifier: CA411487654

Gene: SOX10 POLR2F

Linked Data

• gnomAD v4: 22-37973509-G-C
• MyVariant Identifiers: chr22:g.38369516G>C (hg19) ; chr22:g.37973509G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37973509G>C , CM000684.2:g.37973509G>C	GRCh38
NC_000022.10:g.38369516G>C , CM000684.1:g.38369516G>C	GRCh37
NC_000022.9:g.36699462G>C	NCBI36
NG_007948.1:g.16024C>G , LRG_271:g.16024C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698177.1:c.1603C>G (SOX10)	ENSP00000513596.1:p.Leu535Val
ENST00000690831.1:c.*1009C>G (SOX10)	ENSP00000510381.1:n.*1009C>G
ENST00000396884.8:c.1387C>G (SOX10) MANE Select	ENSP00000380093.2:p.Leu463Val
ENST00000651746.1:c.166-2505C>G (SOX10)
ENST00000360880.6:c.1387C>G (SOX10)	ENSP00000354130.2:p.Leu463Val
ENST00000396884.6:c.1387C>G (SOX10)	ENSP00000380093.2:p.Leu463Val
ENST00000405557.5:c.293+6339G>C (POLR2F)	ENSP00000384112.1:n.293+6339G>C
ENST00000407936.5:c.293+6339G>C (POLR2F)	ENSP00000385725.1:n.293+6339G>C
ENST00000443002.5:c.*38+1199G>C (POLR2F)	ENSP00000406826.1:n.*38+1199G>C
ENST00000446929.5:c.482+535C>G (SOX10)
NM_001301130.1:c.293+6339G>C (POLR2F)	NP_001288059.1:n.293+6339G>C
NM_001301131.1:c.293+6339G>C (POLR2F)	NP_001288060.1:n.293+6339G>C
NM_006941.3:c.1387C>G , LRG_271t1:c.1387C>G (SOX10)	NP_008872.1:p.Leu463Val
XR_938243.1:n.158+1199G>C
NM_001363825.1:c.*38+1199G>C (POLR2F)	NP_001350754.1:n.*38+1199G>C
NM_001301130.2:c.293+6339G>C (POLR2F)	NP_001288059.1:n.293+6339G>C
NM_001301131.2:c.293+6339G>C (POLR2F)	NP_001288060.1:n.293+6339G>C
NM_006941.4:c.1387C>G (SOX10) MANE Select	NP_008872.1:p.Leu463Val