Canonical Allele Identifier: CA114688
Community Standard Title: NM_024782.3(NHEJ1):c.169C>G (p.Arg57Gly)
Gene: NHEJ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219158194G>C , CM000664.2:g.219158194G>C GRCh38
NC_000002.11:g.220022916G>C , CM000664.1:g.220022916G>C GRCh37
NC_000002.10:g.219731160G>C NCBI36
NG_007880.1:g.7672C>G , LRG_90:g.7672C>G

Transcript Alleles

HGVS Amino-acid Change
NM_024782.3:c.169C>G MANE Select NP_079058.1:p.Arg57Gly
ENST00000356853.10:c.169C>G MANE Select ENSP00000349313.5:p.Arg57Gly
NM_001377498.1:c.169C>G NP_001364427.1:p.Arg57Gly
NM_001377499.1:c.169C>G NP_001364428.1:p.Arg57Gly
NM_024782.2:c.169C>G , LRG_90t1:c.169C>G NP_079058.1:p.Arg57Gly
NR_165304.1:n.265C>G
ENST00000318673.6:c.*1291C>G ENSP00000320919.3:n.*1291C>G
ENST00000356853.9:c.169C>G ENSP00000349313.5:p.Arg57Gly
ENST00000409720.5:c.169C>G ENSP00000387290.1:p.Arg57Gly
ENST00000418099.5:c.169C>G ENSP00000408966.1:p.Arg57Gly
ENST00000426304.6:c.169C>G ENSP00000394896.2:p.Arg57Gly
ENST00000450447.1:c.144+25C>G ENSP00000408421.1:n.144+25C>G
ENST00000457600.2:c.169C>G ENSP00000407201.1:p.Arg57Gly
ENST00000457600.3:c.169C>G ENSP00000407201.2:p.Arg57Gly
ENST00000498327.5:n.2357C>G
ENST00000698174.1:c.169C>G ENSP00000513594.1:p.Arg57Gly
ENST00000698175.1:c.169C>G ENSP00000513595.1:p.Arg57Gly
ENST00000698176.1:n.241C>G
ENST00000698202.1:c.169C>G ENSP00000513605.1:p.Arg57Gly
ENST00000698203.1:c.169C>G ENSP00000513606.1:p.Arg57Gly