Canonical Allele Identifier: CA4943221

Gene: TONSL

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144440021C>T , CM000670.2:g.144440021C>T	GRCh38
NC_000008.10:g.145665404C>T , CM000670.1:g.145665404C>T	GRCh37
NC_000008.9:g.145636212C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_013432.5:c.1480G>A MANE Select	NP_038460.4:p.Glu494Lys
ENST00000409379.8:c.1480G>A MANE Select	ENSP00000386239.3:p.Glu494Lys
NM_013432.4:c.1480G>A	NP_038460.4:p.Glu494Lys
ENST00000409379.7:c.1480G>A	ENSP00000386239.3:p.Glu494Lys
ENST00000497613.2:n.2455G>A
ENST00000613741.1:c.989G>A	ENSP00000484162.1:p.Arg330Gln
XM_011517047.1:c.1480G>A	XP_011515349.1:p.Glu494Lys
XM_011517048.1:c.508G>A	XP_011515350.1:p.Glu170Lys
XM_011517048.2:c.508G>A	XP_011515350.1:p.Glu170Lys
XM_011517049.1:c.472G>A	XP_011515351.1:p.Glu158Lys
XM_011517049.2:c.472G>A	XP_011515351.1:p.Glu158Lys
XM_011517050.1:c.1480G>A	XP_011515352.1:p.Glu494Lys
XM_011517050.2:c.1480G>A	XP_011515352.1:p.Glu494Lys