Canonical Allele Identifier: CA411497833

Gene: SOX10 POLR2F

Linked Data

• MyVariant Identifiers: chr22:g.38374055C>G (hg19) ; chr22:g.37978048C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37978048C>G , CM000684.2:g.37978048C>G	GRCh38
NC_000022.10:g.38374055C>G , CM000684.1:g.38374055C>G	GRCh37
NC_000022.9:g.36704001C>G	NCBI36
NG_007948.1:g.11485G>C , LRG_271:g.11485G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000698177.1:c.732G>C (SOX10)	ENSP00000513596.1:p.Lys244Asn
ENST00000690831.1:c.*138G>C (SOX10)	ENSP00000510381.1:n.*138G>C
ENST00000396884.8:c.516G>C (SOX10) MANE Select	ENSP00000380093.2:p.Lys172Asn
ENST00000360880.6:c.516G>C (SOX10)	ENSP00000354130.2:p.Lys172Asn
ENST00000396884.6:c.516G>C (SOX10)	ENSP00000380093.2:p.Lys172Asn
ENST00000405557.5:c.293+10878C>G (POLR2F)	ENSP00000384112.1:n.293+10878C>G
ENST00000407936.5:c.294-8106C>G (POLR2F)	ENSP00000385725.1:n.294-8106C>G
ENST00000427770.1:c.516G>C (SOX10)	ENSP00000414853.1:p.Lys172Asn
ENST00000443002.5:c.*38+5738C>G (POLR2F)	ENSP00000406826.1:n.*38+5738C>G
ENST00000446929.5:c.146G>C (SOX10)
NM_001301130.1:c.294-8106C>G (POLR2F)	NP_001288059.1:n.294-8106C>G
NM_001301131.1:c.293+10878C>G (POLR2F)	NP_001288060.1:n.293+10878C>G
NM_006941.3:c.516G>C , LRG_271t1:c.516G>C (SOX10)	NP_008872.1:p.Lys172Asn
XR_938243.1:n.158+5738C>G
NM_001363825.1:c.*38+5738C>G (POLR2F)	NP_001350754.1:n.*38+5738C>G
NM_001301130.2:c.294-8106C>G (POLR2F)	NP_001288059.1:n.294-8106C>G
NM_001301131.2:c.293+10878C>G (POLR2F)	NP_001288060.1:n.293+10878C>G
NM_006941.4:c.516G>C (SOX10) MANE Select	NP_008872.1:p.Lys172Asn