Canonical Allele Identifier: CA4943104

Gene: TONSL TONSL-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144437080C>T , CM000670.2:g.144437080C>T	GRCh38
NC_000008.10:g.145662463C>T , CM000670.1:g.145662463C>T	GRCh37
NC_000008.9:g.145633271C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_013432.5:c.1673G>A (TONSL) MANE Select	NP_038460.4:p.Arg558Gln
ENST00000409379.8:c.1673G>A (TONSL) MANE Select	ENSP00000386239.3:p.Arg558Gln
NM_013432.4:c.1673G>A (TONSL)	NP_038460.4:p.Arg558Gln
NR_109770.1:n.518+85C>T (TONSL-AS1)
ENST00000409379.7:c.1673G>A (TONSL)	ENSP00000386239.3:p.Arg558Gln
ENST00000497613.2:n.2648G>A (TONSL)
ENST00000613741.1:c.1181G>A (TONSL)	ENSP00000484162.1:p.Arg394Gln
XM_011517047.1:c.1673G>A (TONSL)	XP_011515349.1:p.Arg558Gln
XM_011517048.1:c.701G>A (TONSL)	XP_011515350.1:p.Arg234Gln
XM_011517048.2:c.701G>A (TONSL)	XP_011515350.1:p.Arg234Gln
XM_011517049.1:c.665G>A (TONSL)	XP_011515351.1:p.Arg222Gln
XM_011517049.2:c.665G>A (TONSL)	XP_011515351.1:p.Arg222Gln
XM_011517050.1:c.1673G>A (TONSL)	XP_011515352.1:p.Arg558Gln
XM_011517050.2:c.1673G>A (TONSL)	XP_011515352.1:p.Arg558Gln