Canonical Allele Identifier: CA3179959
Community Standard Title: NM_004237.4(TRIP13):c.712G>A (p.Asp238Asn)
Gene: TRIP13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.908027G>A , CM000667.2:g.908027G>A GRCh38
NC_000005.9:g.908142G>A , CM000667.1:g.908142G>A GRCh37
NC_000005.8:g.961142G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_004237.4:c.712G>A MANE Select NP_004228.1:p.Asp238Asn
ENST00000166345.8:c.712G>A MANE Select ENSP00000166345.3:p.Asp238Asn
NM_001166260.1:c.712G>A NP_001159732.1:p.Asp238Asn
NM_001166260.2:c.712G>A NP_001159732.1:p.Asp238Asn
NM_004237.3:c.712G>A NP_004228.1:p.Asp238Asn
ENST00000166345.7:c.712G>A ENSP00000166345.3:p.Asp238Asn
ENST00000512024.5:n.827G>A
ENST00000513435.1:c.699G>A
XM_011514163.1:c.712G>A XP_011512465.1:p.Asp238Asn
XM_011514163.2:c.712G>A XP_011512465.1:p.Asp238Asn
XR_925677.1:n.233-247C>T