Canonical Allele Identifier: CA4478048

Gene: TNPO3

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128982266C>T , CM000669.2:g.128982266C>T	GRCh38
NC_000007.13:g.128622320C>T , CM000669.1:g.128622320C>T	GRCh37
NC_000007.12:g.128409556C>T	NCBI36
NG_023428.1:g.77908G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_012470.4:c.1841G>A MANE Select	NP_036602.1:p.Arg614His
ENST00000265388.10:c.1841G>A MANE Select	ENSP00000265388.5:p.Arg614His
NM_001191028.2:c.1649G>A	NP_001177957.2:p.Arg550His
NM_001191028.3:c.1649G>A	NP_001177957.2:p.Arg550His
NM_001382216.1:c.1943G>A	NP_001369145.1:p.Arg648His
NM_001382217.1:c.1922G>A	NP_001369146.1:p.Arg641His
NM_001382218.1:c.1841G>A	NP_001369147.1:p.Arg614His
NM_001382219.1:c.1733G>A	NP_001369148.1:p.Arg578His
NM_001382220.1:c.1841G>A	NP_001369149.1:p.Arg614His
NM_001382221.1:c.1697G>A	NP_001369150.1:p.Arg566His
NM_001382222.1:c.1694G>A	NP_001369151.1:p.Arg565His
NM_001382223.1:c.1649G>A	NP_001369152.1:p.Arg550His
NM_012470.3:c.1841G>A	NP_036602.1:p.Arg614His
NR_034053.2:n.2405G>A
NR_034053.3:n.2343G>A
NR_167911.1:n.2430G>A
NR_167912.1:n.2182G>A
NR_167913.1:n.2090G>A
NR_167914.1:n.2250G>A
NR_167915.1:n.2343G>A
NR_167916.1:n.2182G>A
NR_167917.1:n.2031+1902G>A
NR_167918.1:n.2468G>A
NR_167919.1:n.2307G>A
NR_167920.1:n.2468G>A
NR_167921.1:n.2468G>A
NR_167922.1:n.2304G>A
NR_167923.1:n.2307G>A
NR_167924.1:n.2182G>A
NR_167925.1:n.2123+1902G>A
NR_167926.1:n.2318G>A
NR_167927.1:n.2409G>A
ENST00000265388.9:c.1841G>A	ENSP00000265388.5:p.Arg614His
ENST00000471166.1:c.1943G>A	ENSP00000418267.1:p.Arg648His
ENST00000471234.5:c.1649G>A	ENSP00000418646.1:p.Arg550His
ENST00000482320.5:c.1643G>A	ENSP00000420089.1:p.Arg548His
ENST00000627585.2:c.1943G>A	ENSP00000487231.1:p.Arg648His
XM_011515989.1:c.1643G>A	XP_011514291.1:p.Arg548His