Canonical Allele Identifier: CA474242232
Community Standard Title: NM_015231.3(NUP160):c.725+12C>T
Gene: NUP160 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47837533G>A , CM000673.2:g.47837533G>A GRCh38
NC_000011.9:g.47859085G>A , CM000673.1:g.47859085G>A GRCh37
NC_000011.8:g.47815661G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_015231.3:c.725+12C>T MANE Select NP_056046.2:n.725+12C>T
ENST00000378460.7:c.725+12C>T MANE Select ENSP00000367721.3:n.725+12C>T
NM_015231.1:c.827+12C>T NP_056046.1:n.827+12C>T
NM_015231.2:c.827+12C>T NP_056046.1:n.827+12C>T
NR_134636.1:n.951+12C>T
NR_134636.2:n.757+12C>T
NR_134636.3:n.757+12C>T
ENST00000378460.6:c.827+12C>T ENSP00000367721.2:n.827+12C>T
ENST00000528071.5:c.741+12C>T
ENST00000528501.5:c.303+12C>T ENSP00000433964.2:n.303+12C>T
ENST00000530326.5:c.720+12C>T
ENST00000694866.1:c.827+12C>T ENSP00000511549.1:n.827+12C>T
XM_006718170.2:c.-1151+12C>T XP_006718233.1:n.-1151+12C>T