Canonical Allele Identifier: CA4943226

Gene: TONSL

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144440042C>T , CM000670.2:g.144440042C>T	GRCh38
NC_000008.10:g.145665425C>T , CM000670.1:g.145665425C>T	GRCh37
NC_000008.9:g.145636233C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_013432.5:c.1459G>A MANE Select	NP_038460.4:p.Glu487Lys
ENST00000409379.8:c.1459G>A MANE Select	ENSP00000386239.3:p.Glu487Lys
NM_013432.4:c.1459G>A	NP_038460.4:p.Glu487Lys
ENST00000409379.7:c.1459G>A	ENSP00000386239.3:p.Glu487Lys
ENST00000497613.2:n.2434G>A
ENST00000613741.1:c.968G>A	ENSP00000484162.1:p.Arg323Gln
XM_011517047.1:c.1459G>A	XP_011515349.1:p.Glu487Lys
XM_011517048.1:c.487G>A	XP_011515350.1:p.Glu163Lys
XM_011517048.2:c.487G>A	XP_011515350.1:p.Glu163Lys
XM_011517049.1:c.451G>A	XP_011515351.1:p.Glu151Lys
XM_011517049.2:c.451G>A	XP_011515351.1:p.Glu151Lys
XM_011517050.1:c.1459G>A	XP_011515352.1:p.Glu487Lys
XM_011517050.2:c.1459G>A	XP_011515352.1:p.Glu487Lys