Canonical Allele Identifier: CA486956980
Gene: TRMT5 HGNC NCBI

Linked Data

gnomAD v4: 14-60975671-C-T
MyVariant Identifiers: chr14:g.61442389C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60975671C>T , CM000676.2:g.60975671C>T GRCh38
NC_000014.8:g.61442389C>T , CM000676.1:g.61442389C>T GRCh37
NC_000014.7:g.60512142C>T NCBI36
NG_053119.1:g.11020G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000261249.7:c.1248G>A MANE Select ENSP00000261249.6:p.Val416=
ENST00000261249.6:c.1248G>A ENSP00000261249.6:p.Val416=
NM_020810.3:c.1248G>A MANE Select NP_065861.3:p.Val416=
XM_005267916.2:c.1332G>A XP_005267973.2:p.Val444=
XM_011537017.1:c.1329G>A XP_011535319.1:p.Val443=
NM_001350253.1:c.1332G>A NP_001337182.1:p.Val444=
NM_001350254.1:c.1329G>A NP_001337183.1:p.Val443=
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