Canonical Allele Identifier: CA10653635

Gene: TRMU

Linked Data

• ClinVar Variation Id: 341999
• ClinVar RCV Id: RCV000268531 ; RCV000830903
• dbSNP Id: rs116519615
• gnomAD v2: 22-46731545-G-C
• gnomAD v3: 22-46335648-G-C
• gnomAD v4: 22-46335648-G-C
• MyVariant Identifiers: chr22:g.46731545G>C (hg19) ; chr22:g.46335648G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.46335648G>C , CM000684.2:g.46335648G>C	GRCh38
NC_000022.10:g.46731545G>C , CM000684.1:g.46731545G>C	GRCh37
NC_000022.9:g.45110209G>C	NCBI36
NG_012173.1:g.5248G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290846.8:c.-117G>C	ENSP00000290846.4:n.-117G>C
ENST00000381021.7:c.-117G>C	ENSP00000370409.3:n.-117G>C
ENST00000441818.5:c.-117G>C	ENSP00000393014.1:n.-117G>C
ENST00000453630.5:c.-117G>C	ENSP00000398488.1:n.-117G>C
ENST00000456595.5:c.-117G>C	ENSP00000413880.1:n.-117G>C
ENST00000457572.5:c.-117G>C	ENSP00000407700.1:n.-117G>C
ENST00000486620.5:n.287-2131G>C
NM_001282782.1:c.-352G>C	NP_001269711.1:n.-352G>C
NM_001282783.1:c.-371G>C	NP_001269712.1:n.-371G>C
NM_001282784.1:c.-371G>C	NP_001269713.1:n.-371G>C
NM_001282785.1:c.-117G>C	NP_001269714.1:n.-117G>C
NM_018006.4:c.-117G>C	NP_060476.2:n.-117G>C
NR_104240.1:n.248G>C
NR_104241.1:n.248G>C