Canonical Allele Identifier: CA2404601891

Gene: SOX10 POLR2F

Linked Data

• dbSNP Id: rs1932109592
• gnomAD v4: 22-37973171-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37973171G>T , CM000684.2:g.37973171G>T	GRCh38
NC_000022.10:g.38369178G>T , CM000684.1:g.38369178G>T	GRCh37
NC_000022.9:g.36699124G>T	NCBI36
NG_007948.1:g.16362C>A , LRG_271:g.16362C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698177.1:c.*324C>A (SOX10)	ENSP00000513596.1:n.*324C>A
ENST00000690831.1:c.*1347C>A (SOX10)	ENSP00000510381.1:n.*1347C>A
ENST00000396884.8:c.*324C>A (SOX10) MANE Select	ENSP00000380093.2:n.*324C>A
ENST00000651746.1:c.166-2167C>A (SOX10)
ENST00000360880.6:c.*324C>A (SOX10)	ENSP00000354130.2:n.*324C>A
ENST00000396884.6:c.*324C>A (SOX10)	ENSP00000380093.2:n.*324C>A
ENST00000405557.5:c.293+6001G>T (POLR2F)	ENSP00000384112.1:n.293+6001G>T
ENST00000407936.5:c.293+6001G>T (POLR2F)	ENSP00000385725.1:n.293+6001G>T
ENST00000443002.5:c.*38+861G>T (POLR2F)	ENSP00000406826.1:n.*38+861G>T
ENST00000446929.5:c.482+873C>A (SOX10)
NM_001301130.1:c.293+6001G>T (POLR2F)	NP_001288059.1:n.293+6001G>T
NM_001301131.1:c.293+6001G>T (POLR2F)	NP_001288060.1:n.293+6001G>T
NM_006941.3:c.*324C>A , LRG_271t1:c.*324C>A (SOX10)	NP_008872.1:n.*324C>A
XR_938243.1:n.158+861G>T
NM_001363825.1:c.*38+861G>T (POLR2F)	NP_001350754.1:n.*38+861G>T
NM_001301130.2:c.293+6001G>T (POLR2F)	NP_001288059.1:n.293+6001G>T
NM_001301131.2:c.293+6001G>T (POLR2F)	NP_001288060.1:n.293+6001G>T
NM_006941.4:c.*324C>A (SOX10) MANE Select	NP_008872.1:n.*324C>A