Canonical Allele Identifier: CA401111178
Community Standard Title: NM_199242.3(UNC13D):c.683+1G>A
Gene: UNC13D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75840761C>T , CM000679.2:g.75840761C>T GRCh38
NC_000017.10:g.73836842C>T , CM000679.1:g.73836842C>T GRCh37
NC_000017.9:g.71348437C>T NCBI36
NG_007266.1:g.8957G>A , LRG_122:g.8957G>A

Transcript Alleles

HGVS Amino-acid Change
NM_199242.3:c.683+1G>A MANE Select NP_954712.1:n.683+1G>A
ENST00000207549.9:c.683+1G>A MANE Select ENSP00000207549.3:n.683+1G>A
NM_199242.2:c.683+1G>A , LRG_122t1:c.683+1G>A NP_954712.1:n.683+1G>A
ENST00000207549.8:c.683+1G>A ENSP00000207549.3:n.683+1G>A
ENST00000412096.6:c.683+1G>A ENSP00000388093.1:n.683+1G>A
ENST00000585574.6:c.*105+1G>A ENSP00000514389.1:n.*105+1G>A
ENST00000586147.1:c.117+3460G>A ENSP00000466543.1:n.117+3460G>A
ENST00000587495.1:n.270G>A
ENST00000587504.5:n.648+1G>A
ENST00000587504.6:c.626+1G>A ENSP00000514388.1:n.626+1G>A
ENST00000590762.5:c.626+1G>A ENSP00000467653.1:n.626+1G>A
ENST00000591563.5:n.764+1G>A
ENST00000592386.5:c.662+1G>A ENSP00000466826.1:n.662+1G>A
ENST00000592386.6:c.665+1G>A ENSP00000466826.2:n.665+1G>A
XM_011524504.1:c.683+1G>A XP_011522806.1:n.683+1G>A
XM_011524504.2:c.683+1G>A XP_011522806.1:n.683+1G>A
XM_011524505.1:c.683+1G>A XP_011522807.1:n.683+1G>A
XM_011524506.1:c.683+1G>A XP_011522808.1:n.683+1G>A
XM_011524507.1:c.74+1G>A XP_011522809.1:n.74+1G>A
XM_011524507.2:c.74+1G>A XP_011522809.1:n.74+1G>A
XM_011524508.1:c.74+1G>A XP_011522810.1:n.74+1G>A
XM_024450640.1:c.74+1G>A XP_024306408.1:n.74+1G>A