Canonical Allele Identifier: CA224374463

Linked Data

ClinVar Variation Id: 1810173
ClinVar RCV Id: RCV002508729
dbSNP Id: rs950057959

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72106007G>A , CM000673.2:g.72106007G>A GRCh38
NC_000011.9:g.71817053G>A , CM000673.1:g.71817053G>A GRCh37
NC_000011.8:g.71494701G>A NCBI36
NG_021423.1:g.30672G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000541899.3:c.56G>A (TOMT) MANE Select ENSP00000494667.1:p.Arg19Gln
ENST00000541899.2:c.56G>A (TOMT) ENSP00000494667.1:p.Arg19Gln
ENST00000643715.1:c.438-2598G>A (LRTOMT) ENSP00000496019.1:n.438-2598G>A
ENST00000646163.1:c.73-49G>A (LRTOMT) ENSP00000494749.1:n.73-49G>A
ENST00000307198.11:c.155G>A (LRRC51) ENSP00000305742.7:p.Arg52Gln
ENST00000419228.2:c.84-49G>A (LRRC51) ENSP00000392233.2:n.84-49G>A
ENST00000427369.6:c.558G>A (LRRC51) ENSP00000409403.2:p.Ala186=
ENST00000435085.5:c.155G>A (LRRC51) ENSP00000409789.1:p.Arg52Gln
ENST00000439209.5:c.438-2598G>A (LRRC51) ENSP00000395139.1:n.438-2598G>A
ENST00000541899.1:n.213G>A (LRRC51)
ENST00000544409.5:c.487-49G>A (LRRC51) ENSP00000440969.1:n.487-49G>A
NM_001145308.4:c.155G>A (LRTOMT) NP_001138780.1:p.Arg52Gln
NM_001145309.3:c.155G>A (LRTOMT) NP_001138781.1:p.Arg52Gln
NM_001145310.3:c.84-49G>A (LRTOMT) NP_001138782.1:n.84-49G>A
XM_011544849.1:c.380G>A (LRTOMT) XP_011543151.1:p.Arg127Gln
XM_024448401.1:c.380G>A (LRTOMT) XP_024304169.1:p.Arg127Gln
NM_001145308.5:c.155G>A (LRTOMT) NP_001138780.1:p.Arg52Gln
NM_001145309.4:c.155G>A (LRTOMT) NP_001138781.1:p.Arg52Gln
NM_001145310.4:c.84-49G>A (LRTOMT) NP_001138782.1:n.84-49G>A
NM_001393500.1:c.56G>A (TOMT) NP_001380429.1:p.Arg19Gln
NM_001393500.2:c.56G>A (TOMT) MANE Select NP_001380429.1:p.Arg19Gln