Canonical Allele Identifier: CA362391027

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.178149766C>G , CM000667.2:g.178149766C>G GRCh38
NC_000005.9:g.177576767C>G , CM000667.1:g.177576767C>G GRCh37
NC_000005.8:g.177509373C>G NCBI36
NG_011765.1:g.9195G>C , LRG_346:g.9195G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000314397.9:c.*30G>C (NHP2) ENSP00000366276.2:n.*30G>C
ENST00000697323.1:n.310G>C (NHP2)
ENST00000274606.8:c.409G>C (NHP2) MANE Select ENSP00000274606.4:p.Glu137Gln
ENST00000313386.9:c.*1734C>G (RMND5B) MANE Select ENSP00000320623.4:n.*1734C>G
ENST00000274606.7:c.409G>C (NHP2) ENSP00000274606.3:p.Glu137Gln
ENST00000314397.8:c.*30G>C (NHP2) ENSP00000366276.2:n.*30G>C
ENST00000513162.5:n.4025C>G (RMND5B)
ENST00000515098.5:c.*1734C>G (RMND5B) ENSP00000420875.1:n.*1734C>G
NM_001034833.1:c.*30G>C (NHP2) NP_001030005.1:n.*30G>C
NM_017838.3:c.409G>C , LRG_346t1:c.409G>C (NHP2) NP_060308.1:p.Glu137Gln
NM_022762.5:c.*1734C>G (RMND5B) MANE Select NP_073599.2:n.*1734C>G
NM_017838.4:c.409G>C (NHP2) MANE Select NP_060308.1:p.Glu137Gln
NM_001034833.2:c.*30G>C (NHP2) NP_001030005.1:n.*30G>C
NM_001288794.2:c.*1734C>G (RMND5B) NP_001275723.1:n.*1734C>G
NM_001288795.2:c.*1734C>G (RMND5B) NP_001275724.1:n.*1734C>G
NM_001396110.1:c.*30G>C (NHP2) NP_001383039.1:n.*30G>C