Canonical Allele Identifier: CA1981839945

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72106175G= , CM000673.2:g.72106175G= GRCh38
NC_000011.9:g.71817221G= , CM000673.1:g.71817221G= GRCh37
NC_000011.8:g.71494869G= NCBI36
NG_021423.1:g.30840G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000541899.3:c.224G= (TOMT) MANE Select ENSP00000494667.1:p.Arg75=
ENST00000541899.2:c.224G= (TOMT) ENSP00000494667.1:p.Arg75=
ENST00000643715.1:c.438-2430G= (LRTOMT) ENSP00000496019.1:n.438-2430G=
ENST00000646163.1:c.*42G= (LRTOMT) ENSP00000494749.1:n.*42G=
ENST00000307198.11:c.323G= (LRRC51) ENSP00000305742.7:p.Arg108=
ENST00000419228.2:c.203G= (LRRC51) ENSP00000392233.2:p.Arg68=
ENST00000427369.6:c.*42G= (LRRC51) ENSP00000409403.2:n.*42G=
ENST00000435085.5:c.323G= (LRRC51) ENSP00000409789.1:p.Arg108=
ENST00000439209.5:c.438-2430G= (LRRC51) ENSP00000395139.1:n.438-2430G=
ENST00000541899.1:n.381G= (LRRC51)
ENST00000544409.5:c.*42G= (LRRC51) ENSP00000440969.1:n.*42G=
NM_001145308.4:c.323G= (LRTOMT) NP_001138780.1:p.Arg108=
NM_001145309.3:c.323G= (LRTOMT) NP_001138781.1:p.Arg108=
NM_001145310.3:c.203G= (LRTOMT) NP_001138782.1:p.Arg68=
XM_011544849.1:c.548G= (LRTOMT) XP_011543151.1:p.Arg183=
XM_024448401.1:c.548G= (LRTOMT) XP_024304169.1:p.Arg183=
NM_001145308.5:c.323G= (LRTOMT) NP_001138780.1:p.Arg108=
NM_001145309.4:c.323G= (LRTOMT) NP_001138781.1:p.Arg108=
NM_001145310.4:c.203G= (LRTOMT) NP_001138782.1:p.Arg68=
NM_001393500.1:c.224G= (TOMT) NP_001380429.1:p.Arg75=
NM_001393500.2:c.224G= (TOMT) MANE Select NP_001380429.1:p.Arg75=