Canonical Allele Identifier: CA4943496

Gene: TONSL

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144442115G>A , CM000670.2:g.144442115G>A	GRCh38
NC_000008.10:g.145667498G>A , CM000670.1:g.145667498G>A	GRCh37
NC_000008.9:g.145638306G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_013432.5:c.787C>T MANE Select	NP_038460.4:p.Arg263Ter
ENST00000409379.8:c.787C>T MANE Select	ENSP00000386239.3:p.Arg263Ter
NM_013432.4:c.787C>T	NP_038460.4:p.Arg263Ter
ENST00000409379.7:c.787C>T	ENSP00000386239.3:p.Arg263Ter
ENST00000497613.2:n.742C>T
ENST00000613741.1:c.308C>T	ENSP00000484162.1:p.Ala103Val
XM_011517047.1:c.787C>T	XP_011515349.1:p.Arg263Ter
XM_011517048.1:c.-76C>T	XP_011515350.1:n.-76C>T
XM_011517048.2:c.-76C>T	XP_011515350.1:n.-76C>T
XM_011517049.1:c.-76C>T	XP_011515351.1:n.-76C>T
XM_011517049.2:c.-76C>T	XP_011515351.1:n.-76C>T
XM_011517050.1:c.787C>T	XP_011515352.1:p.Arg263Ter
XM_011517050.2:c.787C>T	XP_011515352.1:p.Arg263Ter