Canonical Allele Identifier: CA4943181
Community Standard Title: NM_013432.5(TONSL):c.1531C>T (p.Gln511Ter)
Gene: TONSL HGNC NCBI
TONSL-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144438685G>A , CM000670.2:g.144438685G>A GRCh38
NC_000008.10:g.145664068G>A , CM000670.1:g.145664068G>A GRCh37
NC_000008.9:g.145634876G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_013432.5:c.1531C>T (TONSL) MANE Select NP_038460.4:p.Gln511Ter
ENST00000409379.8:c.1531C>T (TONSL) MANE Select ENSP00000386239.3:p.Gln511Ter
NM_013432.4:c.1531C>T (TONSL) NP_038460.4:p.Gln511Ter
NR_109770.1:n.681G>A (TONSL-AS1)
ENST00000409379.7:c.1531C>T (TONSL) ENSP00000386239.3:p.Gln511Ter
ENST00000497613.2:n.2506C>T (TONSL)
ENST00000613741.1:c.1040C>T (TONSL) ENSP00000484162.1:p.Ser347Leu
XM_011517047.1:c.1531C>T (TONSL) XP_011515349.1:p.Gln511Ter
XM_011517048.1:c.559C>T (TONSL) XP_011515350.1:p.Gln187Ter
XM_011517048.2:c.559C>T (TONSL) XP_011515350.1:p.Gln187Ter
XM_011517049.1:c.523C>T (TONSL) XP_011515351.1:p.Gln175Ter
XM_011517049.2:c.523C>T (TONSL) XP_011515351.1:p.Gln175Ter
XM_011517050.1:c.1531C>T (TONSL) XP_011515352.1:p.Gln511Ter
XM_011517050.2:c.1531C>T (TONSL) XP_011515352.1:p.Gln511Ter