Canonical Allele Identifier: CA14495713
Community Standard Title: NM_022463.5(NXN):c.613-172T>C
Gene: NXN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.822629A>G , CM000679.2:g.822629A>G GRCh38
NC_000017.10:g.725869A>G , CM000679.1:g.725869A>G GRCh37
NC_000017.9:g.672619A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_022463.5:c.613-172T>C MANE Select NP_071908.2:n.613-172T>C
ENST00000336868.8:c.613-172T>C MANE Select ENSP00000337443.3:n.613-172T>C
NM_001205319.1:c.289-172T>C NP_001192248.1:n.289-172T>C
NM_022463.4:c.613-172T>C NP_071908.2:n.613-172T>C
ENST00000336868.7:c.613-172T>C ENSP00000337443.3:n.613-172T>C
ENST00000537628.6:c.-135-172T>C ENSP00000446446.2:n.-135-172T>C
ENST00000571684.5:c.176-172T>C
ENST00000575455.5:n.382-172T>C
ENST00000575801.5:c.289-172T>C ENSP00000461038.1:n.289-172T>C
XM_005256756.3:c.613-172T>C XP_005256813.1:n.613-172T>C
XM_005256756.4:c.613-172T>C XP_005256813.1:n.613-172T>C
XM_005256757.2:c.289-172T>C XP_005256814.1:n.289-172T>C
XM_005256758.2:c.274-172T>C XP_005256815.1:n.274-172T>C
XM_005256758.3:c.274-172T>C XP_005256815.1:n.274-172T>C
XM_017024949.1:c.613-172T>C XP_016880438.1:n.613-172T>C