Canonical Allele Identifier: CA388284052

Gene: DIS3

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.72761930T>A , CM000675.2:g.72761930T>A	GRCh38
NC_000013.10:g.73336068T>A , CM000675.1:g.73336068T>A	GRCh37
NC_000013.9:g.72234069T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_014953.5:c.2335A>T MANE Select	NP_055768.3:p.Ile779Phe
ENST00000377767.9:c.2335A>T MANE Select	ENSP00000366997.4:p.Ile779Phe
NM_001128226.2:c.2245A>T	NP_001121698.1:p.Ile749Phe
NM_001128226.3:c.2245A>T	NP_001121698.1:p.Ile749Phe
NM_001322348.1:c.1966A>T	NP_001309277.1:p.Ile656Phe
NM_001322348.2:c.1966A>T	NP_001309277.1:p.Ile656Phe
NM_001322349.1:c.1849A>T	NP_001309278.1:p.Ile617Phe
NM_001322349.2:c.1849A>T	NP_001309278.1:p.Ile617Phe
NM_014953.4:c.2335A>T	NP_055768.3:p.Ile779Phe
ENST00000377767.8:c.2335A>T	ENSP00000366997.4:p.Ile779Phe
ENST00000377780.8:c.2245A>T	ENSP00000367011.4:p.Ile749Phe
ENST00000490646.1:c.*570A>T	ENSP00000436350.1:n.*570A>T
ENST00000545453.5:c.1849A>T	ENSP00000440058.1:p.Ile617Phe
XM_005266294.1:c.1849A>T	XP_005266351.1:p.Ile617Phe
XM_006719778.1:c.1966A>T	XP_006719841.1:p.Ile656Phe