Canonical Allele Identifier: CA8264071
Community Standard Title: NM_022463.5(NXN):c.820+42C>G
Gene: NXN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.819397G>C , CM000679.2:g.819397G>C GRCh38
NC_000017.10:g.722637G>C , CM000679.1:g.722637G>C GRCh37
NC_000017.9:g.669387G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_022463.5:c.820+42C>G MANE Select NP_071908.2:n.820+42C>G
ENST00000336868.8:c.820+42C>G MANE Select ENSP00000337443.3:n.820+42C>G
NM_001205319.1:c.496+42C>G NP_001192248.1:n.496+42C>G
NM_022463.4:c.820+42C>G NP_071908.2:n.820+42C>G
ENST00000336868.7:c.820+42C>G ENSP00000337443.3:n.820+42C>G
ENST00000537628.6:c.73+42C>G ENSP00000446446.2:n.73+42C>G
ENST00000571684.5:c.383+42C>G
ENST00000575455.5:n.631C>G
ENST00000575801.5:c.496+42C>G ENSP00000461038.1:n.496+42C>G
XM_005256756.3:c.820+42C>G XP_005256813.1:n.820+42C>G
XM_005256756.4:c.820+42C>G XP_005256813.1:n.820+42C>G
XM_005256757.2:c.496+42C>G XP_005256814.1:n.496+42C>G
XM_005256758.2:c.481+42C>G XP_005256815.1:n.481+42C>G
XM_005256758.3:c.481+42C>G XP_005256815.1:n.481+42C>G
XM_017024949.1:c.820+42C>G XP_016880438.1:n.820+42C>G