Canonical Allele Identifier: CA475864929

Linked Data

MyVariant Identifiers: chr11:g.71817240C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72106194C>T , CM000673.2:g.72106194C>T GRCh38
NC_000011.9:g.71817240C>T , CM000673.1:g.71817240C>T GRCh37
NC_000011.8:g.71494888C>T NCBI36
NG_021423.1:g.30859C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000541899.3:c.243C>T (TOMT) MANE Select ENSP00000494667.1:p.His81=
ENST00000541899.2:c.243C>T (TOMT) ENSP00000494667.1:p.His81=
ENST00000643715.1:c.438-2411C>T (LRTOMT) ENSP00000496019.1:n.438-2411C>T
ENST00000646163.1:c.*61C>T (LRTOMT) ENSP00000494749.1:n.*61C>T
ENST00000307198.11:c.342C>T (LRRC51) ENSP00000305742.7:p.His114=
ENST00000419228.2:c.222C>T (LRRC51) ENSP00000392233.2:p.His74=
ENST00000427369.6:c.*61C>T (LRRC51) ENSP00000409403.2:n.*61C>T
ENST00000435085.5:c.342C>T (LRRC51) ENSP00000409789.1:p.His114=
ENST00000439209.5:c.438-2411C>T (LRRC51) ENSP00000395139.1:n.438-2411C>T
ENST00000541899.1:n.400C>T (LRRC51)
ENST00000544409.5:c.*61C>T (LRRC51) ENSP00000440969.1:n.*61C>T
NM_001145308.4:c.342C>T (LRTOMT) NP_001138780.1:p.His114=
NM_001145309.3:c.342C>T (LRTOMT) NP_001138781.1:p.His114=
NM_001145310.3:c.222C>T (LRTOMT) NP_001138782.1:p.His74=
XM_011544849.1:c.567C>T (LRTOMT) XP_011543151.1:p.His189=
XM_024448401.1:c.567C>T (LRTOMT) XP_024304169.1:p.His189=
NM_001145308.5:c.342C>T (LRTOMT) NP_001138780.1:p.His114=
NM_001145309.4:c.342C>T (LRTOMT) NP_001138781.1:p.His114=
NM_001145310.4:c.222C>T (LRTOMT) NP_001138782.1:p.His74=
NM_001393500.1:c.243C>T (TOMT) NP_001380429.1:p.His81=
NM_001393500.2:c.243C>T (TOMT) MANE Select NP_001380429.1:p.His81=