Canonical Allele Identifier: CA1981839886

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72106051C= , CM000673.2:g.72106051C= GRCh38
NC_000011.9:g.71817097C= , CM000673.1:g.71817097C= GRCh37
NC_000011.8:g.71494745C= NCBI36
NG_021423.1:g.30716C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000541899.3:c.100C= (TOMT) MANE Select ENSP00000494667.1:p.Arg34=
ENST00000541899.2:c.100C= (TOMT) ENSP00000494667.1:p.Arg34=
ENST00000643715.1:c.438-2554C= (LRTOMT) ENSP00000496019.1:n.438-2554C=
ENST00000646163.1:c.73-5C= (LRTOMT) ENSP00000494749.1:n.73-5C=
ENST00000307198.11:c.199C= (LRRC51) ENSP00000305742.7:p.Arg67=
ENST00000419228.2:c.84-5C= (LRRC51) ENSP00000392233.2:n.84-5C=
ENST00000427369.6:c.602C= (LRRC51) ENSP00000409403.2:p.Ala201=
ENST00000435085.5:c.199C= (LRRC51) ENSP00000409789.1:p.Arg67=
ENST00000439209.5:c.438-2554C= (LRRC51) ENSP00000395139.1:n.438-2554C=
ENST00000541899.1:n.257C= (LRRC51)
ENST00000544409.5:c.487-5C= (LRRC51) ENSP00000440969.1:n.487-5C=
NM_001145308.4:c.199C= (LRTOMT) NP_001138780.1:p.Arg67=
NM_001145309.3:c.199C= (LRTOMT) NP_001138781.1:p.Arg67=
NM_001145310.3:c.84-5C= (LRTOMT) NP_001138782.1:n.84-5C=
XM_011544849.1:c.424C= (LRTOMT) XP_011543151.1:p.Arg142=
XM_024448401.1:c.424C= (LRTOMT) XP_024304169.1:p.Arg142=
NM_001145308.5:c.199C= (LRTOMT) NP_001138780.1:p.Arg67=
NM_001145309.4:c.199C= (LRTOMT) NP_001138781.1:p.Arg67=
NM_001145310.4:c.84-5C= (LRTOMT) NP_001138782.1:n.84-5C=
NM_001393500.1:c.100C= (TOMT) NP_001380429.1:p.Arg34=
NM_001393500.2:c.100C= (TOMT) MANE Select NP_001380429.1:p.Arg34=