Canonical Allele Identifier: CA401117964
Community Standard Title: NM_199242.3(UNC13D):c.153+1G>A
Gene: UNC13D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75843483C>T , CM000679.2:g.75843483C>T GRCh38
NC_000017.10:g.73839564C>T , CM000679.1:g.73839564C>T GRCh37
NC_000017.9:g.71351159C>T NCBI36
NG_007266.1:g.6235G>A , LRG_122:g.6235G>A

Transcript Alleles

HGVS Amino-acid Change
NM_199242.3:c.153+1G>A MANE Select NP_954712.1:n.153+1G>A
ENST00000207549.9:c.153+1G>A MANE Select ENSP00000207549.3:n.153+1G>A
NM_199242.2:c.153+1G>A , LRG_122t1:c.153+1G>A NP_954712.1:n.153+1G>A
ENST00000207549.8:c.153+1G>A ENSP00000207549.3:n.153+1G>A
ENST00000412096.6:c.153+1G>A ENSP00000388093.1:n.153+1G>A
ENST00000585574.5:n.129+1G>A
ENST00000585574.6:c.96+1G>A ENSP00000514389.1:n.96+1G>A
ENST00000586108.1:c.153+1G>A ENSP00000464749.1:n.153+1G>A
ENST00000586147.1:c.117+738G>A ENSP00000466543.1:n.117+738G>A
ENST00000587504.5:n.118+1G>A
ENST00000587504.6:c.96+1G>A ENSP00000514388.1:n.96+1G>A
ENST00000588774.1:n.830+1G>A
ENST00000588774.2:n.940+1G>A
ENST00000590762.5:c.96+1G>A ENSP00000467653.1:n.96+1G>A
ENST00000591563.5:n.234+1G>A
ENST00000592386.5:c.150+1G>A ENSP00000466826.1:n.150+1G>A
ENST00000592386.6:c.153+1G>A ENSP00000466826.2:n.153+1G>A
ENST00000699512.1:c.48+1G>A ENSP00000514407.1:n.48+1G>A
ENST00000699513.1:c.153+1G>A ENSP00000514408.1:n.153+1G>A
XM_011524504.1:c.153+1G>A XP_011522806.1:n.153+1G>A
XM_011524504.2:c.153+1G>A XP_011522806.1:n.153+1G>A
XM_011524505.1:c.153+1G>A XP_011522807.1:n.153+1G>A
XM_011524506.1:c.153+1G>A XP_011522808.1:n.153+1G>A
XM_011524507.1:c.-457+1G>A XP_011522809.1:n.-457+1G>A
XM_011524507.2:c.-457+1G>A XP_011522809.1:n.-457+1G>A