Canonical Allele Identifier: CA4477894
Community Standard Title: NM_012470.4(TNPO3):c.2306G>A (p.Arg769Gln)
Gene: TNPO3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128972550C>T , CM000669.2:g.128972550C>T GRCh38
NC_000007.13:g.128612604C>T , CM000669.1:g.128612604C>T GRCh37
NC_000007.12:g.128399840C>T NCBI36
NG_023428.1:g.87624G>A

Transcript Alleles

HGVS Amino-acid Change
NM_012470.4:c.2306G>A MANE Select NP_036602.1:p.Arg769Gln
ENST00000265388.10:c.2306G>A MANE Select ENSP00000265388.5:p.Arg769Gln
NM_001191028.2:c.2114G>A NP_001177957.2:p.Arg705Gln
NM_001191028.3:c.2114G>A NP_001177957.2:p.Arg705Gln
NM_001382216.1:c.2408G>A NP_001369145.1:p.Arg803Gln
NM_001382217.1:c.2387G>A NP_001369146.1:p.Arg796Gln
NM_001382218.1:c.2306G>A NP_001369147.1:p.Arg769Gln
NM_001382219.1:c.2198G>A NP_001369148.1:p.Arg733Gln
NM_001382220.1:c.2165G>A NP_001369149.1:p.Arg722Gln
NM_001382221.1:c.2162G>A NP_001369150.1:p.Arg721Gln
NM_001382222.1:c.2159G>A NP_001369151.1:p.Arg720Gln
NM_001382223.1:c.2114G>A NP_001369152.1:p.Arg705Gln
NM_012470.3:c.2306G>A NP_036602.1:p.Arg769Gln
NR_034053.2:n.2870G>A
NR_034053.3:n.2808G>A
NR_167911.1:n.2895G>A
NR_167912.1:n.2753G>A
NR_167913.1:n.2555G>A
NR_167914.1:n.2715G>A
NR_167915.1:n.2971G>A
NR_167916.1:n.2445G>A
NR_167917.1:n.2478G>A
NR_167918.1:n.2933G>A
NR_167919.1:n.2772G>A
NR_167920.1:n.2731G>A
NR_167921.1:n.2933G>A
NR_167922.1:n.2769G>A
NR_167923.1:n.2570G>A
NR_167924.1:n.2647G>A
NR_167925.1:n.2570G>A
NR_167926.1:n.2581G>A
NR_167927.1:n.2874G>A
ENST00000265388.9:c.2306G>A ENSP00000265388.5:p.Arg769Gln
ENST00000471166.1:c.2408G>A ENSP00000418267.1:p.Arg803Gln
ENST00000471234.5:c.2114G>A ENSP00000418646.1:p.Arg705Gln
ENST00000482320.5:c.2108G>A ENSP00000420089.1:p.Arg703Gln
ENST00000627585.2:c.2408G>A ENSP00000487231.1:p.Arg803Gln
XM_011515989.1:c.2108G>A XP_011514291.1:p.Arg703Gln