Canonical Allele Identifier: CA14442689

Gene: NXN

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.804983G>A , CM000679.2:g.804983G>A	GRCh38
NC_000017.10:g.708223G>A , CM000679.1:g.708223G>A	GRCh37
NC_000017.9:g.654973G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336868.8:c.1000+85C>T MANE Select	ENSP00000337443.3:n.1000+85C>T
ENST00000336868.7:c.1000+85C>T	ENSP00000337443.3:n.1000+85C>T
ENST00000537628.6:c.253+85C>T	ENSP00000446446.2:n.253+85C>T
ENST00000571684.5:c.384-1177C>T
ENST00000574018.1:n.39+227C>T
ENST00000575801.5:c.676+85C>T	ENSP00000461038.1:n.676+85C>T
NM_001205319.1:c.676+85C>T	NP_001192248.1:n.676+85C>T
NM_022463.4:c.1000+85C>T	NP_071908.2:n.1000+85C>T
XM_005256756.3:c.821-1177C>T	XP_005256813.1:n.821-1177C>T
XM_005256757.2:c.676+85C>T	XP_005256814.1:n.676+85C>T
XM_005256758.2:c.661+85C>T	XP_005256815.1:n.661+85C>T
XM_005256756.4:c.821-1177C>T	XP_005256813.1:n.821-1177C>T
XM_005256758.3:c.661+85C>T	XP_005256815.1:n.661+85C>T
NM_022463.5:c.1000+85C>T MANE Select	NP_071908.2:n.1000+85C>T