Canonical Allele Identifier: CA2663196844

Gene: NHEJ1

Linked Data

• gnomAD v4: 2-219146555-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219146555A>G , CM000664.2:g.219146555A>G	GRCh38
NC_000002.11:g.220011277A>G , CM000664.1:g.220011277A>G	GRCh37
NC_000002.10:g.219719521A>G	NCBI36
NG_007880.1:g.19311T>C , LRG_90:g.19311T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426304.6:c.588+125T>C	ENSP00000394896.2:n.588+125T>C
ENST00000457600.3:c.588+125T>C	ENSP00000407201.2:n.588+125T>C
ENST00000698174.1:c.588+125T>C	ENSP00000513594.1:n.588+125T>C
ENST00000698175.1:c.*335+125T>C	ENSP00000513595.1:n.*335+125T>C
ENST00000698176.1:n.660+125T>C
ENST00000698202.1:c.588+125T>C	ENSP00000513605.1:n.588+125T>C
ENST00000698203.1:c.588+125T>C	ENSP00000513606.1:n.588+125T>C
ENST00000356853.10:c.588+125T>C MANE Select	ENSP00000349313.5:n.588+125T>C
ENST00000318673.6:c.*1710+125T>C	ENSP00000320919.3:n.*1710+125T>C
ENST00000356853.9:c.588+125T>C	ENSP00000349313.5:n.588+125T>C
ENST00000409720.5:c.588+125T>C	ENSP00000387290.1:n.588+125T>C
ENST00000418099.5:c.588+125T>C	ENSP00000408966.1:n.588+125T>C
ENST00000426304.5:c.348+125T>C	ENSP00000394896.1:n.348+125T>C
ENST00000457600.2:c.588+125T>C	ENSP00000407201.1:n.588+125T>C
ENST00000498327.5:n.2776+125T>C
NM_024782.2:c.588+125T>C , LRG_90t1:c.588+125T>C	NP_079058.1:n.588+125T>C
NM_001377498.1:c.588+125T>C	NP_001364427.1:n.588+125T>C
NM_001377499.1:c.588+125T>C	NP_001364428.1:n.588+125T>C
NM_024782.3:c.588+125T>C MANE Select	NP_079058.1:n.588+125T>C
NR_165304.1:n.684+125T>C