Canonical Allele Identifier: CA187666692

Gene: TONSL TONSL-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144435526G>A , CM000670.2:g.144435526G>A	GRCh38
NC_000008.10:g.145660909G>A , CM000670.1:g.145660909G>A	GRCh37
NC_000008.9:g.145631717G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_013432.5:c.2800C>T (TONSL) MANE Select	NP_038460.4:p.Arg934Trp
ENST00000409379.8:c.2800C>T (TONSL) MANE Select	ENSP00000386239.3:p.Arg934Trp
NM_013432.4:c.2800C>T (TONSL)	NP_038460.4:p.Arg934Trp
NR_109770.1:n.273+86G>A (TONSL-AS1)
ENST00000409379.7:c.2800C>T (TONSL)	ENSP00000386239.3:p.Arg934Trp
ENST00000497613.2:n.3775C>T (TONSL)
XM_011517047.1:c.2800C>T (TONSL)	XP_011515349.1:p.Arg934Trp
XM_011517048.1:c.1828C>T (TONSL)	XP_011515350.1:p.Arg610Trp
XM_011517048.2:c.1828C>T (TONSL)	XP_011515350.1:p.Arg610Trp
XM_011517049.1:c.1792C>T (TONSL)	XP_011515351.1:p.Arg598Trp
XM_011517049.2:c.1792C>T (TONSL)	XP_011515351.1:p.Arg598Trp
XM_011517050.1:c.2804C>T (TONSL)	XP_011515352.1:p.Pro935Leu
XM_011517050.2:c.2804C>T (TONSL)	XP_011515352.1:p.Pro935Leu