Canonical Allele Identifier: CA3021385

Gene: TRMT10A

Linked Data

• ClinVar Variation Id: 437054
• ClinVar RCV Id: RCV000501506 ; RCV000911862 ; RCV003935316
• dbSNP Id: rs143207059
• ExAC: 4:100470310 G / T
• gnomAD v2: 4-100470310-G-T
• gnomAD v3: 4-99549153-G-T
• gnomAD v4: 4-99549153-G-T
• MyVariant Identifiers: chr4:g.100470310G>T (hg19) ; chr4:g.99549153G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99549153G>T , CM000666.2:g.99549153G>T	GRCh38
NC_000004.11:g.100470310G>T , CM000666.1:g.100470310G>T	GRCh37
NC_000004.10:g.100689333G>T	NCBI36
NG_041774.1:g.19905C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394876.7:c.955C>A MANE Select	ENSP00000378342.2:p.Pro319Thr
ENST00000273962.7:c.955C>A	ENSP00000273962.3:p.Pro319Thr
ENST00000394876.6:c.955C>A	ENSP00000378342.2:p.Pro319Thr
ENST00000394877.7:c.955C>A	ENSP00000378343.3:p.Pro319Thr
NM_001134665.2:c.955C>A	NP_001128137.1:p.Pro319Thr
NM_001134666.2:c.955C>A	NP_001128138.1:p.Pro319Thr
NM_152292.4:c.955C>A	NP_689505.1:p.Pro319Thr
XM_005263352.3:c.955C>A	XP_005263409.1:p.Pro319Thr
XM_006714417.2:c.955C>A	XP_006714480.1:p.Pro319Thr
XM_006714418.2:c.*6C>A	XP_006714481.1:n.*6C>A
NM_001134665.3:c.955C>A MANE Select	NP_001128137.1:p.Pro319Thr
NM_001134666.3:c.955C>A	NP_001128138.1:p.Pro319Thr
NM_001375880.1:c.955C>A	NP_001362809.1:p.Pro319Thr
NM_001375881.1:c.955C>A	NP_001362810.1:p.Pro319Thr
NM_001375882.1:c.934C>A	NP_001362811.1:p.Pro312Thr
NM_152292.5:c.955C>A	NP_689505.1:p.Pro319Thr