Canonical Allele Identifier: CA2657375249

Gene: TRMU

Linked Data

• gnomAD v4: 22-46352477-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.46352477G>T , CM000684.2:g.46352477G>T	GRCh38
NC_000022.10:g.46748374G>T , CM000684.1:g.46748374G>T	GRCh37
NC_000022.9:g.45127038G>T	NCBI36
NG_012173.1:g.22077G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465378.6:n.967G>T
ENST00000642923.1:c.667+147G>T	ENSP00000494255.1:n.667+147G>T
ENST00000643137.1:c.667+147G>T	ENSP00000495331.1:n.667+147G>T
ENST00000644006.1:c.*216+147G>T	ENSP00000493778.1:n.*216+147G>T
ENST00000645026.1:n.823+147G>T
ENST00000645190.1:c.772+147G>T MANE Select	ENSP00000496496.1:n.772+147G>T
ENST00000647301.1:c.*216+147G>T	ENSP00000496641.1:n.*216+147G>T
ENST00000290846.8:c.772+147G>T	ENSP00000290846.4:n.772+147G>T
ENST00000381019.3:c.772+147G>T	ENSP00000370407.3:n.772+147G>T
ENST00000381021.7:c.*365+147G>T	ENSP00000370409.3:n.*365+147G>T
ENST00000441818.5:c.*306+147G>T	ENSP00000393014.1:n.*306+147G>T
ENST00000453630.5:c.*310+147G>T	ENSP00000398488.1:n.*310+147G>T
ENST00000456595.5:c.*306+147G>T	ENSP00000413880.1:n.*306+147G>T
ENST00000457572.5:c.*216+147G>T	ENSP00000407700.1:n.*216+147G>T
ENST00000463785.1:n.241-48G>T
NM_001282782.1:c.430+147G>T	NP_001269711.1:n.430+147G>T
NM_001282783.1:c.352+147G>T	NP_001269712.1:n.352+147G>T
NM_001282784.1:c.352+147G>T	NP_001269713.1:n.352+147G>T
NM_001282785.1:c.772+147G>T	NP_001269714.1:n.772+147G>T
NM_018006.4:c.772+147G>T	NP_060476.2:n.772+147G>T
NR_104240.1:n.1081+147G>T
NR_104241.1:n.974+147G>T
XM_005261678.1:c.376+147G>T	XP_005261735.1:n.376+147G>T
XM_005261681.1:c.376+147G>T	XP_005261738.1:n.376+147G>T
XM_011530271.1:c.667+147G>T	XP_011528573.1:n.667+147G>T
XM_011530272.1:c.772+147G>T	XP_011528574.1:n.772+147G>T
XM_011530273.1:c.772+147G>T	XP_011528575.1:n.772+147G>T
XM_011530274.1:c.430+147G>T	XP_011528576.1:n.430+147G>T
XM_011530275.1:c.376+147G>T	XP_011528577.1:n.376+147G>T
XM_011530271.2:c.667+147G>T	XP_011528573.1:n.667+147G>T
XM_011530272.2:c.772+147G>T	XP_011528574.1:n.772+147G>T
XM_011530273.2:c.772+147G>T	XP_011528575.1:n.772+147G>T
XM_011530274.2:c.430+147G>T	XP_011528576.1:n.430+147G>T
XM_024452260.1:c.667+147G>T	XP_024308028.1:n.667+147G>T
XR_001755261.2:n.819-48G>T
XR_001755262.2:n.819-48G>T
NM_018006.5:c.772+147G>T MANE Select	NP_060476.2:n.772+147G>T
NM_001282782.2:c.430+147G>T	NP_001269711.1:n.430+147G>T
NM_001282783.2:c.352+147G>T	NP_001269712.1:n.352+147G>T
NM_001282784.2:c.352+147G>T	NP_001269713.1:n.352+147G>T
NM_001282785.2:c.772+147G>T	NP_001269714.1:n.772+147G>T
NR_104240.2:n.768+147G>T
NR_104241.2:n.661+147G>T