Canonical Allele Identifier: CA3021542

Gene: TRMT10A

Linked Data

• ClinVar Variation Id: 437057
• ClinVar RCV Id: RCV000501846 ; RCV000764520 ; RCV001410599
• dbSNP Id: rs10007569
• ExAC: 4:100478524 C / T
• gnomAD v2: 4-100478524-C-T
• gnomAD v3: 4-99557367-C-T
• gnomAD v4: 4-99557367-C-T
• MyVariant Identifiers: chr4:g.100478524C>T (hg19) ; chr4:g.99557367C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99557367C>T , CM000666.2:g.99557367C>T	GRCh38
NC_000004.11:g.100478524C>T , CM000666.1:g.100478524C>T	GRCh37
NC_000004.10:g.100697547C>T	NCBI36
NG_041774.1:g.11691G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394876.7:c.398G>A MANE Select	ENSP00000378342.2:p.Arg133Gln
ENST00000273962.7:c.398G>A	ENSP00000273962.3:p.Arg133Gln
ENST00000394876.6:c.398G>A	ENSP00000378342.2:p.Arg133Gln
ENST00000394877.7:c.398G>A	ENSP00000378343.3:p.Arg133Gln
ENST00000455368.6:c.398G>A	ENSP00000397551.2:p.Arg133Gln
ENST00000514547.1:c.398G>A	ENSP00000423628.1:p.Arg133Gln
ENST00000515831.1:n.164G>A
NM_001134665.2:c.398G>A	NP_001128137.1:p.Arg133Gln
NM_001134666.2:c.398G>A	NP_001128138.1:p.Arg133Gln
NM_152292.4:c.398G>A	NP_689505.1:p.Arg133Gln
XM_005263352.3:c.398G>A	XP_005263409.1:p.Arg133Gln
XM_006714417.2:c.398G>A	XP_006714480.1:p.Arg133Gln
XM_006714418.2:c.398G>A	XP_006714481.1:p.Arg133Gln
NM_001134665.3:c.398G>A MANE Select	NP_001128137.1:p.Arg133Gln
NM_001134666.3:c.398G>A	NP_001128138.1:p.Arg133Gln
NM_001375880.1:c.398G>A	NP_001362809.1:p.Arg133Gln
NM_001375881.1:c.398G>A	NP_001362810.1:p.Arg133Gln
NM_001375882.1:c.398G>A	NP_001362811.1:p.Arg133Gln
NM_152292.5:c.398G>A	NP_689505.1:p.Arg133Gln