Canonical Allele Identifier: CA4477956
Community Standard Title: NM_012470.4(TNPO3):c.2178+17G>A
Gene: TNPO3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128975802C>T , CM000669.2:g.128975802C>T GRCh38
NC_000007.13:g.128615856C>T , CM000669.1:g.128615856C>T GRCh37
NC_000007.12:g.128403092C>T NCBI36
NG_023428.1:g.84372G>A

Transcript Alleles

HGVS Amino-acid Change
NM_012470.4:c.2178+17G>A MANE Select NP_036602.1:n.2178+17G>A
ENST00000265388.10:c.2178+17G>A MANE Select ENSP00000265388.5:n.2178+17G>A
NM_001191028.2:c.1986+17G>A NP_001177957.2:n.1986+17G>A
NM_001191028.3:c.1986+17G>A NP_001177957.2:n.1986+17G>A
NM_001382216.1:c.2280+17G>A NP_001369145.1:n.2280+17G>A
NM_001382217.1:c.2259+17G>A NP_001369146.1:n.2259+17G>A
NM_001382218.1:c.2178+17G>A NP_001369147.1:n.2178+17G>A
NM_001382219.1:c.2070+17G>A NP_001369148.1:n.2070+17G>A
NM_001382220.1:c.2037+17G>A NP_001369149.1:n.2037+17G>A
NM_001382221.1:c.2034+17G>A NP_001369150.1:n.2034+17G>A
NM_001382222.1:c.2031+17G>A NP_001369151.1:n.2031+17G>A
NM_001382223.1:c.1986+17G>A NP_001369152.1:n.1986+17G>A
NM_012470.3:c.2178+17G>A NP_036602.1:n.2178+17G>A
NR_034053.2:n.2742+17G>A
NR_034053.3:n.2680+17G>A
NR_167911.1:n.2767+17G>A
NR_167912.1:n.2625+17G>A
NR_167913.1:n.2427+17G>A
NR_167914.1:n.2587+17G>A
NR_167915.1:n.2680+17G>A
NR_167916.1:n.2317+17G>A
NR_167917.1:n.2350+17G>A
NR_167918.1:n.2805+17G>A
NR_167919.1:n.2644+17G>A
NR_167920.1:n.2603+17G>A
NR_167921.1:n.2805+17G>A
NR_167922.1:n.2641+17G>A
NR_167923.1:n.2442+17G>A
NR_167924.1:n.2519+17G>A
NR_167925.1:n.2442+17G>A
NR_167926.1:n.2453+17G>A
NR_167927.1:n.2746+17G>A
ENST00000265388.9:c.2178+17G>A ENSP00000265388.5:n.2178+17G>A
ENST00000471166.1:c.2280+17G>A ENSP00000418267.1:n.2280+17G>A
ENST00000471234.5:c.1986+17G>A ENSP00000418646.1:n.1986+17G>A
ENST00000482320.5:c.1980+17G>A ENSP00000420089.1:n.1980+17G>A
ENST00000627585.2:c.2280+17G>A ENSP00000487231.1:n.2280+17G>A
XM_011515989.1:c.1980+17G>A XP_011514291.1:n.1980+17G>A