Canonical Allele Identifier: CA114910

Gene: TRMU

Linked Data

• ClinVar Variation Id: 1290
• ClinVar RCV Id: RCV000001353 ; RCV000173461 ; RCV000295210 ; RCV000676757
• dbSNP Id: rs11090865
• ExAC: 22:46731689 G / T
• gnomAD v2: 22-46731689-G-T
• gnomAD v3: 22-46335792-G-T
• gnomAD v4: 22-46335792-G-T
• MyVariant Identifiers: chr22:g.46731689G>T (hg19) ; chr22:g.46335792G>T (hg38)
• PubMed: PMID:8817331 ; PMID:16826519 ; PMID:28049726

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.46335792G>T , CM000684.2:g.46335792G>T	GRCh38
NC_000022.10:g.46731689G>T , CM000684.1:g.46731689G>T	GRCh37
NC_000022.9:g.45110353G>T	NCBI36
NG_012173.1:g.5392G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000493556.2:n.104G>T
ENST00000642562.1:c.28G>T	ENSP00000494679.1:p.Ala10Ser
ENST00000645026.1:n.79G>T
ENST00000645190.1:c.28G>T MANE Select	ENSP00000496496.1:p.Ala10Ser
ENST00000647301.1:c.28G>T	ENSP00000496641.1:p.Ala10Ser
ENST00000290846.8:c.28G>T	ENSP00000290846.4:p.Ala10Ser
ENST00000381019.3:c.28G>T	ENSP00000370407.3:p.Ala10Ser
ENST00000381021.7:c.28G>T	ENSP00000370409.3:p.Ala10Ser
ENST00000441818.5:c.28G>T	ENSP00000393014.1:p.Ala10Ser
ENST00000453630.5:c.28G>T	ENSP00000398488.1:p.Ala10Ser
ENST00000456595.5:c.28G>T	ENSP00000413880.1:p.Ala10Ser
ENST00000457572.5:c.28G>T	ENSP00000407700.1:p.Ala10Ser
ENST00000486620.5:n.287-1987G>T
NM_001282782.1:c.-208G>T	NP_001269711.1:n.-208G>T
NM_001282783.1:c.-227G>T	NP_001269712.1:n.-227G>T
NM_001282784.1:c.-227G>T	NP_001269713.1:n.-227G>T
NM_001282785.1:c.28G>T	NP_001269714.1:p.Ala10Ser
NM_018006.4:c.28G>T	NP_060476.2:p.Ala10Ser
NR_104240.1:n.392G>T
NR_104241.1:n.392G>T
XM_005261678.1:c.-310G>T	XP_005261735.1:n.-310G>T
XM_005261681.1:c.-310G>T	XP_005261738.1:n.-310G>T
XM_011530272.1:c.28G>T	XP_011528574.1:p.Ala10Ser
XM_011530273.1:c.28G>T	XP_011528575.1:p.Ala10Ser
XM_011530272.2:c.28G>T	XP_011528574.1:p.Ala10Ser
XM_011530273.2:c.28G>T	XP_011528575.1:p.Ala10Ser
XR_001755261.2:n.74G>T
XR_001755262.2:n.74G>T
NM_018006.5:c.28G>T MANE Select	NP_060476.2:p.Ala10Ser
NM_001282782.2:c.-208G>T	NP_001269711.1:n.-208G>T
NM_001282783.2:c.-227G>T	NP_001269712.1:n.-227G>T
NM_001282784.2:c.-227G>T	NP_001269713.1:n.-227G>T
NM_001282785.2:c.28G>T	NP_001269714.1:p.Ala10Ser
NR_104240.2:n.79G>T
NR_104241.2:n.79G>T