Canonical Allele Identifier: CA4478381
Community Standard Title: NM_012470.4(TNPO3):c.534T>C (p.Ser178=)
Gene: TNPO3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.129014997A>G , CM000669.2:g.129014997A>G GRCh38
NC_000007.13:g.128655051A>G , CM000669.1:g.128655051A>G GRCh37
NC_000007.12:g.128442287A>G NCBI36
NG_023428.1:g.45177T>C

Transcript Alleles

HGVS Amino-acid Change
NM_012470.4:c.534T>C MANE Select NP_036602.1:p.Ser178=
ENST00000265388.10:c.534T>C MANE Select ENSP00000265388.5:p.Ser178=
NM_001191028.2:c.534T>C NP_001177957.2:p.Ser178=
NM_001191028.3:c.534T>C NP_001177957.2:p.Ser178=
NM_001382216.1:c.534T>C NP_001369145.1:p.Ser178=
NM_001382217.1:c.615T>C NP_001369146.1:p.Ser205=
NM_001382218.1:c.534T>C NP_001369147.1:p.Ser178=
NM_001382219.1:c.534T>C NP_001369148.1:p.Ser178=
NM_001382220.1:c.534T>C NP_001369149.1:p.Ser178=
NM_001382221.1:c.534T>C NP_001369150.1:p.Ser178=
NM_001382222.1:c.534T>C NP_001369151.1:p.Ser178=
NM_001382223.1:c.534T>C NP_001369152.1:p.Ser178=
NM_012470.3:c.534T>C NP_036602.1:p.Ser178=
NR_034053.2:n.1098T>C
NR_034053.3:n.1036T>C
NR_167911.1:n.1123T>C
NR_167912.1:n.875T>C
NR_167913.1:n.875T>C
NR_167914.1:n.875T>C
NR_167915.1:n.1036T>C
NR_167916.1:n.875T>C
NR_167917.1:n.875T>C
NR_167918.1:n.1161T>C
NR_167919.1:n.1000T>C
NR_167920.1:n.1161T>C
NR_167921.1:n.1000T>C
NR_167922.1:n.875T>C
NR_167923.1:n.1000T>C
NR_167924.1:n.875T>C
NR_167925.1:n.875T>C
NR_167926.1:n.1036T>C
NR_167927.1:n.1000T>C
ENST00000265388.9:c.534T>C ENSP00000265388.5:p.Ser178=
ENST00000471166.1:c.534T>C ENSP00000418267.1:p.Ser178=
ENST00000471234.5:c.534T>C ENSP00000418646.1:p.Ser178=
ENST00000482320.5:c.336T>C ENSP00000420089.1:p.Ser112=
ENST00000627585.2:c.534T>C ENSP00000487231.1:p.Ser178=
XM_011515989.1:c.336T>C XP_011514291.1:p.Ser112=