Canonical Allele Identifier: CA1981839953

Gene: TOMT LRTOMT LRRC51

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72106192C= , CM000673.2:g.72106192C=	GRCh38
NC_000011.9:g.71817238C= , CM000673.1:g.71817238C=	GRCh37
NC_000011.8:g.71494886C=	NCBI36
NG_021423.1:g.30857C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541899.3:c.241C= (TOMT) MANE Select	ENSP00000494667.1:p.His81=
ENST00000541899.2:c.241C= (TOMT)	ENSP00000494667.1:p.His81=
ENST00000643715.1:c.438-2413C= (LRTOMT)	ENSP00000496019.1:n.438-2413C=
ENST00000646163.1:c.*59C= (LRTOMT)	ENSP00000494749.1:n.*59C=
ENST00000307198.11:c.340C= (LRRC51)	ENSP00000305742.7:p.His114=
ENST00000419228.2:c.220C= (LRRC51)	ENSP00000392233.2:p.His74=
ENST00000427369.6:c.*59C= (LRRC51)	ENSP00000409403.2:n.*59C=
ENST00000435085.5:c.340C= (LRRC51)	ENSP00000409789.1:p.His114=
ENST00000439209.5:c.438-2413C= (LRRC51)	ENSP00000395139.1:n.438-2413C=
ENST00000541899.1:n.398C= (LRRC51)
ENST00000544409.5:c.*59C= (LRRC51)	ENSP00000440969.1:n.*59C=
NM_001145308.4:c.340C= (LRTOMT)	NP_001138780.1:p.His114=
NM_001145309.3:c.340C= (LRTOMT)	NP_001138781.1:p.His114=
NM_001145310.3:c.220C= (LRTOMT)	NP_001138782.1:p.His74=
XM_011544849.1:c.565C= (LRTOMT)	XP_011543151.1:p.His189=
XM_024448401.1:c.565C= (LRTOMT)	XP_024304169.1:p.His189=
NM_001145308.5:c.340C= (LRTOMT)	NP_001138780.1:p.His114=
NM_001145309.4:c.340C= (LRTOMT)	NP_001138781.1:p.His114=
NM_001145310.4:c.220C= (LRTOMT)	NP_001138782.1:p.His74=
NM_001393500.1:c.241C= (TOMT)	NP_001380429.1:p.His81=
NM_001393500.2:c.241C= (TOMT) MANE Select	NP_001380429.1:p.His81=