Canonical Allele Identifier: CA4478321
Community Standard Title: NM_012470.4(TNPO3):c.831G>C (p.Glu277Asp)
Gene: TNPO3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.129001100C>G , CM000669.2:g.129001100C>G GRCh38
NC_000007.13:g.128641154C>G , CM000669.1:g.128641154C>G GRCh37
NC_000007.12:g.128428390C>G NCBI36
NG_023428.1:g.59074G>C

Transcript Alleles

HGVS Amino-acid Change
NM_012470.4:c.831G>C MANE Select NP_036602.1:p.Glu277Asp
ENST00000265388.10:c.831G>C MANE Select ENSP00000265388.5:p.Glu277Asp
NM_001191028.2:c.831G>C NP_001177957.2:p.Glu277Asp
NM_001191028.3:c.831G>C NP_001177957.2:p.Glu277Asp
NM_001382216.1:c.831G>C NP_001369145.1:p.Glu277Asp
NM_001382217.1:c.912G>C NP_001369146.1:p.Glu304Asp
NM_001382218.1:c.831G>C NP_001369147.1:p.Glu277Asp
NM_001382219.1:c.831G>C NP_001369148.1:p.Glu277Asp
NM_001382220.1:c.831G>C NP_001369149.1:p.Glu277Asp
NM_001382221.1:c.687G>C NP_001369150.1:p.Glu229Asp
NM_001382222.1:c.831G>C NP_001369151.1:p.Glu277Asp
NM_001382223.1:c.831G>C NP_001369152.1:p.Glu277Asp
NM_012470.3:c.831G>C NP_036602.1:p.Glu277Asp
NR_034053.2:n.1395G>C
NR_034053.3:n.1333G>C
NR_167911.1:n.1420G>C
NR_167912.1:n.1172G>C
NR_167913.1:n.1172G>C
NR_167914.1:n.1172G>C
NR_167915.1:n.1333G>C
NR_167916.1:n.1172G>C
NR_167917.1:n.1172G>C
NR_167918.1:n.1458G>C
NR_167919.1:n.1297G>C
NR_167920.1:n.1458G>C
NR_167921.1:n.1458G>C
NR_167922.1:n.1294G>C
NR_167923.1:n.1297G>C
NR_167924.1:n.1172G>C
NR_167925.1:n.1172G>C
NR_167926.1:n.1455G>C
NR_167927.1:n.1297G>C
ENST00000265388.9:c.831G>C ENSP00000265388.5:p.Glu277Asp
ENST00000471166.1:c.831G>C ENSP00000418267.1:p.Glu277Asp
ENST00000471234.5:c.831G>C ENSP00000418646.1:p.Glu277Asp
ENST00000482320.5:c.633G>C ENSP00000420089.1:p.Glu211Asp
ENST00000627585.2:c.831G>C ENSP00000487231.1:p.Glu277Asp
XM_011515989.1:c.633G>C XP_011514291.1:p.Glu211Asp