Canonical Allele Identifier: CA2614917873

Gene: TOMT LRTOMT LRRC51

Linked Data

• gnomAD v4: 11-72106262-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72106262G>A , CM000673.2:g.72106262G>A	GRCh38
NC_000011.9:g.71817308G>A , CM000673.1:g.71817308G>A	GRCh37
NC_000011.8:g.71494956G>A	NCBI36
NG_021423.1:g.30927G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541899.3:c.259+52G>A (TOMT) MANE Select	ENSP00000494667.1:n.259+52G>A
ENST00000541899.2:c.259+52G>A (TOMT)	ENSP00000494667.1:n.259+52G>A
ENST00000643715.1:c.438-2343G>A (LRTOMT)	ENSP00000496019.1:n.438-2343G>A
ENST00000646163.1:c.*77+52G>A (LRTOMT)	ENSP00000494749.1:n.*77+52G>A
ENST00000307198.11:c.358+52G>A (LRRC51)	ENSP00000305742.7:n.358+52G>A
ENST00000419228.2:c.238+52G>A (LRRC51)	ENSP00000392233.2:n.238+52G>A
ENST00000427369.6:c.*77+52G>A (LRRC51)	ENSP00000409403.2:n.*77+52G>A
ENST00000435085.5:c.358+52G>A (LRRC51)	ENSP00000409789.1:n.358+52G>A
ENST00000439209.5:c.438-2343G>A (LRRC51)	ENSP00000395139.1:n.438-2343G>A
ENST00000541899.1:n.416+52G>A (LRRC51)
ENST00000544409.5:c.*77+52G>A (LRRC51)	ENSP00000440969.1:n.*77+52G>A
NM_001145308.4:c.358+52G>A (LRTOMT)	NP_001138780.1:n.358+52G>A
NM_001145309.3:c.358+52G>A (LRTOMT)	NP_001138781.1:n.358+52G>A
NM_001145310.3:c.238+52G>A (LRTOMT)	NP_001138782.1:n.238+52G>A
XM_011544849.1:c.583+52G>A (LRTOMT)	XP_011543151.1:n.583+52G>A
XM_024448401.1:c.583+52G>A (LRTOMT)	XP_024304169.1:n.583+52G>A
NM_001145308.5:c.358+52G>A (LRTOMT)	NP_001138780.1:n.358+52G>A
NM_001145309.4:c.358+52G>A (LRTOMT)	NP_001138781.1:n.358+52G>A
NM_001145310.4:c.238+52G>A (LRTOMT)	NP_001138782.1:n.238+52G>A
NM_001393500.1:c.259+52G>A (TOMT)	NP_001380429.1:n.259+52G>A
NM_001393500.2:c.259+52G>A (TOMT) MANE Select	NP_001380429.1:n.259+52G>A