Canonical Allele Identifier: CA112875739
Gene: TRIP13 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.914504C>G
GRCh37 chr5:g.914619C>G
Revel Score:
ENST00000166345 (MANE Select) 0.499
ClinVar Allele:
2232453
ClinVar RCV:
RCV004099071
ClinVar Variation:
2239566
dbSNP:
376882637
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.914504C>G , CM000667.2:g.914504C>G GRCh38
NC_000005.9:g.914619C>G , CM000667.1:g.914619C>G GRCh37
NC_000005.8:g.967619C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000166345.8:c.1060C>G MANE Select ENSP00000166345.3:p.Arg354Gly
ENST00000166345.7:c.1060C>G ENSP00000166345.3:p.Arg354Gly
NM_004237.3:c.1060C>G NP_004228.1:p.Arg354Gly
XM_011514163.1:c.1060C>G XP_011512465.1:p.Arg354Gly
XM_011514163.2:c.1060C>G XP_011512465.1:p.Arg354Gly
NM_004237.4:c.1060C>G MANE Select NP_004228.1:p.Arg354Gly
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