Canonical Allele Identifier: CA389919089
Gene: TRMT5 HGNC NCBI

Linked Data

gnomAD v4: 14-60975669-T-C
MyVariant Identifiers: chr14:g.61442387T>C (hg19) chr14:g.60975669T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60975669T>C , CM000676.2:g.60975669T>C GRCh38
NC_000014.8:g.61442387T>C , CM000676.1:g.61442387T>C GRCh37
NC_000014.7:g.60512140T>C NCBI36
NG_053119.1:g.11022A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000261249.7:c.1250A>G MANE Select ENSP00000261249.6:p.His417Arg
ENST00000261249.6:c.1250A>G ENSP00000261249.6:p.His417Arg
NM_020810.3:c.1250A>G MANE Select NP_065861.3:p.His417Arg
XM_005267916.2:c.1334A>G XP_005267973.2:p.His445Arg
XM_011537017.1:c.1331A>G XP_011535319.1:p.His444Arg
NM_001350253.1:c.1334A>G NP_001337182.1:p.His445Arg
NM_001350254.1:c.1331A>G NP_001337183.1:p.His444Arg
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