Canonical Allele Identifier: CA14704349

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48664522C>T , CM000681.2:g.48664522C>T GRCh38
NC_000019.9:g.49167779C>T , CM000681.1:g.49167779C>T GRCh37
NC_000019.8:g.53859591C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000270235.11:c.820+57G>A (NTN5) MANE Select ENSP00000270235.4:n.820+57G>A
ENST00000270235.8:c.820+57G>A (NTN5) ENSP00000270235.3:n.820+57G>A
ENST00000430145.3:n.119+1255C>T (SEC1P)
ENST00000474419.5:n.147+1255C>T (SEC1P)
ENST00000483163.1:n.77-15503C>T (SEC1P)
ENST00000596844.5:c.-138+57G>A (NTN5) ENSP00000469490.1:n.-138+57G>A
ENST00000600468.1:n.936+57G>A (NTN5)
NM_145807.2:c.820+57G>A (NTN5) NP_665806.1:n.820+57G>A
NR_004401.2:n.179+1255C>T (SEC1P)
XM_011526443.1:c.820+57G>A (NTN5) XP_011524745.1:n.820+57G>A
XM_011526443.3:c.820+57G>A (NTN5) XP_011524745.1:n.820+57G>A
XM_017026274.1:c.355+57G>A (NTN5) XP_016881763.1:n.355+57G>A
NM_145807.3:c.820+57G>A (NTN5) NP_665806.1:n.820+57G>A
NM_145807.4:c.820+57G>A (NTN5) MANE Select NP_665806.1:n.820+57G>A