Canonical Allele Identifier: CA372642190

Gene: TONSL

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144432431A>G , CM000670.2:g.144432431A>G	GRCh38
NC_000008.10:g.145657814A>G , CM000670.1:g.145657814A>G	GRCh37
NC_000008.9:g.145628622A>G	NCBI36
NG_029456.2:g.1114T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_013432.5:c.3589T>C MANE Select	NP_038460.4:p.Ser1197Pro
ENST00000409379.8:c.3589T>C MANE Select	ENSP00000386239.3:p.Ser1197Pro
NM_013432.4:c.3589T>C	NP_038460.4:p.Ser1197Pro
ENST00000409379.7:c.3589T>C	ENSP00000386239.3:p.Ser1197Pro
ENST00000497613.2:n.5691T>C
XM_011517047.1:c.3589T>C	XP_011515349.1:p.Ser1197Pro
XM_011517048.1:c.2617T>C	XP_011515350.1:p.Ser873Pro
XM_011517048.2:c.2617T>C	XP_011515350.1:p.Ser873Pro
XM_011517049.1:c.2581T>C	XP_011515351.1:p.Ser861Pro
XM_011517049.2:c.2581T>C	XP_011515351.1:p.Ser861Pro