Canonical Allele Identifier: CA8773276

Gene: UNC13D

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75840303C>T , CM000679.2:g.75840303C>T	GRCh38
NC_000017.10:g.73836384C>T , CM000679.1:g.73836384C>T	GRCh37
NC_000017.9:g.71347979C>T	NCBI36
NG_007266.1:g.9415G>A , LRG_122:g.9415G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_199242.3:c.780G>A MANE Select	NP_954712.1:p.Trp260Ter
ENST00000207549.9:c.780G>A MANE Select	ENSP00000207549.3:p.Trp260Ter
NM_199242.2:c.780G>A , LRG_122t1:c.780G>A	NP_954712.1:p.Trp260Ter
ENST00000207549.8:c.780G>A	ENSP00000207549.3:p.Trp260Ter
ENST00000412096.6:c.780G>A	ENSP00000388093.1:p.Trp260Ter
ENST00000586147.1:c.117+3918G>A	ENSP00000466543.1:n.117+3918G>A
ENST00000587105.1:c.2G>A
ENST00000587504.5:n.783G>A
ENST00000587504.6:c.761G>A	ENSP00000514388.1:p.Gly254Asp
ENST00000590762.5:c.723G>A	ENSP00000467653.1:p.Trp241Ter
ENST00000591563.5:n.861G>A
ENST00000592386.5:c.759G>A	ENSP00000466826.1:p.Trp253Ter
ENST00000592386.6:c.762G>A	ENSP00000466826.2:p.Trp254Ter
XM_011524504.1:c.780G>A	XP_011522806.1:p.Trp260Ter
XM_011524504.2:c.780G>A	XP_011522806.1:p.Trp260Ter
XM_011524505.1:c.780G>A	XP_011522807.1:p.Trp260Ter
XM_011524506.1:c.780G>A	XP_011522808.1:p.Trp260Ter
XM_011524507.1:c.171G>A	XP_011522809.1:p.Trp57Ter
XM_011524507.2:c.171G>A	XP_011522809.1:p.Trp57Ter
XM_011524508.1:c.171G>A	XP_011522810.1:p.Trp57Ter
XM_024450640.1:c.171G>A	XP_024306408.1:p.Trp57Ter