Canonical Allele Identifier: CA4870394
Gene: TRMT12 HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.124450992C>T
GRCh37 chr8:g.125463233C>T
Revel Score:
ENST00000328599 (MANE Select) 0.221
gnomAD v2:
8:125463233 C / T
gnomAD v3:
8:124450992 C / T
gnomAD v4:
chr8-124450992-C-T
Joint Max Group AF 0.00034465 (NFE)
Genomes Max Group AF 0.00023032 (NFE)
Exomes Max Group AF 0.00034536 (NFE)
ClinVar RCV:
RCV004080719
ClinVar Variation:
2216810
dbSNP:
201957009
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.124450992C>T , CM000670.2:g.124450992C>T GRCh38
NC_000008.10:g.125463233C>T , CM000670.1:g.125463233C>T GRCh37
NC_000008.9:g.125532414C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000328599.4:c.65C>T MANE Select ENSP00000329858.3:p.Ala22Val
ENST00000521443.1:n.173C>T
ENST00000522518.1:c.65C>T ENSP00000429771.1:p.Ala22Val
NM_017956.3:c.65C>T NP_060426.2:p.Ala22Val
NM_017956.4:c.65C>T MANE Select NP_060426.2:p.Ala22Val
Search 100 bp 5'
Search 100 bp 3'