Canonical Allele Identifier: CA3589279
Community Standard Title: NM_017838.4(NHP2):c.143A>G (p.Tyr48Cys)
Gene: NHP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.178153675T>C , CM000667.2:g.178153675T>C GRCh38
NC_000005.9:g.177580676T>C , CM000667.1:g.177580676T>C GRCh37
NC_000005.8:g.177513282T>C NCBI36
NG_011765.1:g.5286A>G , LRG_346:g.5286A>G

Transcript Alleles

HGVS Amino-acid Change
NM_017838.4:c.143A>G MANE Select NP_060308.1:p.Tyr48Cys
ENST00000274606.8:c.143A>G MANE Select ENSP00000274606.4:p.Tyr48Cys
NM_001034833.1:c.143A>G NP_001030005.1:p.Tyr48Cys
NM_001034833.2:c.143A>G NP_001030005.1:p.Tyr48Cys
NM_001396110.1:c.143A>G NP_001383039.1:p.Tyr48Cys
NM_017838.3:c.143A>G , LRG_346t1:c.143A>G NP_060308.1:p.Tyr48Cys
ENST00000274606.7:c.143A>G ENSP00000274606.3:p.Tyr48Cys
ENST00000314397.8:c.143A>G ENSP00000366276.2:p.Tyr48Cys
ENST00000314397.9:c.143A>G ENSP00000366276.2:p.Tyr48Cys
ENST00000510363.1:n.210A>G
ENST00000511078.1:c.143A>G ENSP00000423849.1:p.Tyr48Cys
ENST00000514354.5:c.143A>G ENSP00000423803.1:p.Tyr48Cys