Canonical Allele Identifier: CA401109479
Community Standard Title: NM_199242.3(UNC13D):c.779G>A (p.Trp260Ter)
Gene: UNC13D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75840304C>T , CM000679.2:g.75840304C>T GRCh38
NC_000017.10:g.73836385C>T , CM000679.1:g.73836385C>T GRCh37
NC_000017.9:g.71347980C>T NCBI36
NG_007266.1:g.9414G>A , LRG_122:g.9414G>A

Transcript Alleles

HGVS Amino-acid Change
NM_199242.3:c.779G>A MANE Select NP_954712.1:p.Trp260Ter
ENST00000207549.9:c.779G>A MANE Select ENSP00000207549.3:p.Trp260Ter
NM_199242.2:c.779G>A , LRG_122t1:c.779G>A NP_954712.1:p.Trp260Ter
ENST00000207549.8:c.779G>A ENSP00000207549.3:p.Trp260Ter
ENST00000412096.6:c.779G>A ENSP00000388093.1:p.Trp260Ter
ENST00000586147.1:c.117+3917G>A ENSP00000466543.1:n.117+3917G>A
ENST00000587105.1:c.1G>A
ENST00000587504.5:n.782G>A
ENST00000587504.6:c.760G>A ENSP00000514388.1:p.Gly254Ser
ENST00000590762.5:c.722G>A ENSP00000467653.1:p.Trp241Ter
ENST00000591563.5:n.860G>A
ENST00000592386.5:c.758G>A ENSP00000466826.1:p.Trp253Ter
ENST00000592386.6:c.761G>A ENSP00000466826.2:p.Trp254Ter
XM_011524504.1:c.779G>A XP_011522806.1:p.Trp260Ter
XM_011524504.2:c.779G>A XP_011522806.1:p.Trp260Ter
XM_011524505.1:c.779G>A XP_011522807.1:p.Trp260Ter
XM_011524506.1:c.779G>A XP_011522808.1:p.Trp260Ter
XM_011524507.1:c.170G>A XP_011522809.1:p.Trp57Ter
XM_011524507.2:c.170G>A XP_011522809.1:p.Trp57Ter
XM_011524508.1:c.170G>A XP_011522810.1:p.Trp57Ter
XM_024450640.1:c.170G>A XP_024306408.1:p.Trp57Ter