Canonical Allele Identifier: CA362391045

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.178149773C>A , CM000667.2:g.178149773C>A GRCh38
NC_000005.9:g.177576774C>A , CM000667.1:g.177576774C>A GRCh37
NC_000005.8:g.177509380C>A NCBI36
NG_011765.1:g.9188G>T , LRG_346:g.9188G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000314397.9:c.*23G>T (NHP2) ENSP00000366276.2:n.*23G>T
ENST00000697323.1:n.303G>T (NHP2)
ENST00000274606.8:c.402G>T (NHP2) MANE Select ENSP00000274606.4:p.Glu134Asp
ENST00000313386.9:c.*1741C>A (RMND5B) MANE Select ENSP00000320623.4:n.*1741C>A
ENST00000274606.7:c.402G>T (NHP2) ENSP00000274606.3:p.Glu134Asp
ENST00000314397.8:c.*23G>T (NHP2) ENSP00000366276.2:n.*23G>T
ENST00000513162.5:n.4032C>A (RMND5B)
ENST00000515098.5:c.*1741C>A (RMND5B) ENSP00000420875.1:n.*1741C>A
NM_001034833.1:c.*23G>T (NHP2) NP_001030005.1:n.*23G>T
NM_017838.3:c.402G>T , LRG_346t1:c.402G>T (NHP2) NP_060308.1:p.Glu134Asp
NM_022762.5:c.*1741C>A (RMND5B) MANE Select NP_073599.2:n.*1741C>A
NM_017838.4:c.402G>T (NHP2) MANE Select NP_060308.1:p.Glu134Asp
NM_001034833.2:c.*23G>T (NHP2) NP_001030005.1:n.*23G>T
NM_001288794.2:c.*1741C>A (RMND5B) NP_001275723.1:n.*1741C>A
NM_001288795.2:c.*1741C>A (RMND5B) NP_001275724.1:n.*1741C>A
NM_001396110.1:c.*23G>T (NHP2) NP_001383039.1:n.*23G>T