Canonical Allele Identifier: CA114913
Gene: TRMU HGNC NCBI

Linked Data

ClinVar Variation Id: 1293
ClinVar RCV Id: RCV000001356
dbSNP Id: rs118203991

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.46353809G>A , CM000684.2:g.46353809G>A GRCh38
NC_000022.10:g.46749706G>A , CM000684.1:g.46749706G>A GRCh37
NC_000022.9:g.45128370G>A NCBI36
NG_012173.1:g.23409G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000642923.1:c.710G>A ENSP00000494255.1:p.Gly237Asp
ENST00000643137.1:c.710G>A ENSP00000495331.1:p.Gly237Asp
ENST00000644006.1:c.*259G>A ENSP00000493778.1:n.*259G>A
ENST00000645026.1:n.866G>A
ENST00000645190.1:c.815G>A MANE Select ENSP00000496496.1:p.Gly272Asp
ENST00000647301.1:c.*259G>A ENSP00000496641.1:n.*259G>A
ENST00000290846.8:c.815G>A ENSP00000290846.4:p.Gly272Asp
ENST00000381019.3:c.815G>A ENSP00000370407.3:p.Gly272Asp
ENST00000381021.7:c.*408G>A ENSP00000370409.3:n.*408G>A
ENST00000441818.5:c.*349G>A ENSP00000393014.1:n.*349G>A
ENST00000453630.5:c.*353G>A ENSP00000398488.1:n.*353G>A
ENST00000456595.5:c.*349G>A ENSP00000413880.1:n.*349G>A
ENST00000457572.5:c.*259G>A ENSP00000407700.1:n.*259G>A
ENST00000485559.1:n.293G>A
ENST00000491612.1:n.981G>A
NM_001282782.1:c.473G>A NP_001269711.1:p.Gly158Asp
NM_001282783.1:c.395G>A NP_001269712.1:p.Gly132Asp
NM_001282784.1:c.395G>A NP_001269713.1:p.Gly132Asp
NM_001282785.1:c.815G>A NP_001269714.1:p.Gly272Asp
NM_018006.4:c.815G>A NP_060476.2:p.Gly272Asp
NR_104240.1:n.1124G>A
NR_104241.1:n.1017G>A
XM_005261678.1:c.419G>A XP_005261735.1:p.Gly140Asp
XM_005261681.1:c.419G>A XP_005261738.1:p.Gly140Asp
XM_011530271.1:c.710G>A XP_011528573.1:p.Gly237Asp
XM_011530272.1:c.772+1479G>A XP_011528574.1:n.772+1479G>A
XM_011530273.1:c.772+1479G>A XP_011528575.1:n.772+1479G>A
XM_011530274.1:c.473G>A XP_011528576.1:p.Gly158Asp
XM_011530275.1:c.419G>A XP_011528577.1:p.Gly140Asp
XM_011530271.2:c.710G>A XP_011528573.1:p.Gly237Asp
XM_011530272.2:c.772+1479G>A XP_011528574.1:n.772+1479G>A
XM_011530273.2:c.772+1479G>A XP_011528575.1:n.772+1479G>A
XM_011530274.2:c.473G>A XP_011528576.1:p.Gly158Asp
XM_024452260.1:c.667+1479G>A XP_024308028.1:n.667+1479G>A
XR_001755261.2:n.2103G>A
XR_001755262.2:n.2103G>A
NM_018006.5:c.815G>A MANE Select NP_060476.2:p.Gly272Asp
NM_001282782.2:c.473G>A NP_001269711.1:p.Gly158Asp
NM_001282783.2:c.395G>A NP_001269712.1:p.Gly132Asp
NM_001282784.2:c.395G>A NP_001269713.1:p.Gly132Asp
NM_001282785.2:c.815G>A NP_001269714.1:p.Gly272Asp
NR_104240.2:n.811G>A
NR_104241.2:n.704G>A