Canonical Allele Identifier: CA8773515
Community Standard Title: NM_199242.3(UNC13D):c.322-2A>T
Gene: UNC13D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75842925T>A , CM000679.2:g.75842925T>A GRCh38
NC_000017.10:g.73839006T>A , CM000679.1:g.73839006T>A GRCh37
NC_000017.9:g.71350601T>A NCBI36
NG_007266.1:g.6793A>T , LRG_122:g.6793A>T

Transcript Alleles

HGVS Amino-acid Change
NM_199242.3:c.322-2A>T MANE Select NP_954712.1:n.322-2A>T
ENST00000207549.9:c.322-2A>T MANE Select ENSP00000207549.3:n.322-2A>T
NM_199242.2:c.322-2A>T , LRG_122t1:c.322-2A>T NP_954712.1:n.322-2A>T
ENST00000207549.8:c.322-2A>T ENSP00000207549.3:n.322-2A>T
ENST00000412096.6:c.322-2A>T ENSP00000388093.1:n.322-2A>T
ENST00000585574.5:n.298-2A>T
ENST00000585574.6:c.265-2A>T ENSP00000514389.1:n.265-2A>T
ENST00000586108.1:c.322-2A>T ENSP00000464749.1:n.322-2A>T
ENST00000586147.1:c.117+1296A>T ENSP00000466543.1:n.117+1296A>T
ENST00000587504.5:n.287-2A>T
ENST00000587504.6:c.265-2A>T ENSP00000514388.1:n.265-2A>T
ENST00000590762.5:c.265-2A>T ENSP00000467653.1:n.265-2A>T
ENST00000591563.5:n.403-2A>T
ENST00000592386.5:c.301-2A>T ENSP00000466826.1:n.301-2A>T
ENST00000592386.6:c.304-2A>T ENSP00000466826.2:n.304-2A>T
ENST00000699512.1:c.157-2A>T ENSP00000514407.1:n.157-2A>T
ENST00000699513.1:c.322-2A>T ENSP00000514408.1:n.322-2A>T
XM_011524504.1:c.322-2A>T XP_011522806.1:n.322-2A>T
XM_011524504.2:c.322-2A>T XP_011522806.1:n.322-2A>T
XM_011524505.1:c.322-2A>T XP_011522807.1:n.322-2A>T
XM_011524506.1:c.322-2A>T XP_011522808.1:n.322-2A>T
XM_011524507.1:c.-288-2A>T XP_011522809.1:n.-288-2A>T
XM_011524507.2:c.-288-2A>T XP_011522809.1:n.-288-2A>T