Canonical Allele Identifier: CA401113779

Gene: UNC13D

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75842450C>T , CM000679.2:g.75842450C>T	GRCh38
NC_000017.10:g.73838531C>T , CM000679.1:g.73838531C>T	GRCh37
NC_000017.9:g.71350126C>T	NCBI36
NG_007266.1:g.7268G>A , LRG_122:g.7268G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_199242.3:c.552G>A MANE Select	NP_954712.1:p.Trp184Ter
ENST00000207549.9:c.552G>A MANE Select	ENSP00000207549.3:p.Trp184Ter
NM_199242.2:c.552G>A , LRG_122t1:c.552G>A	NP_954712.1:p.Trp184Ter
ENST00000207549.8:c.552G>A	ENSP00000207549.3:p.Trp184Ter
ENST00000412096.6:c.552G>A	ENSP00000388093.1:p.Trp184Ter
ENST00000585574.5:n.528G>A
ENST00000585574.6:c.495G>A	ENSP00000514389.1:p.Trp165Ter
ENST00000586147.1:c.117+1771G>A	ENSP00000466543.1:n.117+1771G>A
ENST00000587504.5:n.517G>A
ENST00000587504.6:c.495G>A	ENSP00000514388.1:p.Trp165Ter
ENST00000590762.5:c.495G>A	ENSP00000467653.1:p.Trp165Ter
ENST00000591563.5:n.633G>A
ENST00000592386.5:c.531G>A	ENSP00000466826.1:p.Trp177Ter
ENST00000592386.6:c.534G>A	ENSP00000466826.2:p.Trp178Ter
ENST00000699512.1:c.387G>A	ENSP00000514407.1:p.Trp129Ter
ENST00000699513.1:c.552G>A	ENSP00000514408.1:p.Trp184Ter
XM_011524504.1:c.552G>A	XP_011522806.1:p.Trp184Ter
XM_011524504.2:c.552G>A	XP_011522806.1:p.Trp184Ter
XM_011524505.1:c.552G>A	XP_011522807.1:p.Trp184Ter
XM_011524506.1:c.552G>A	XP_011522808.1:p.Trp184Ter
XM_011524507.1:c.-58G>A	XP_011522809.1:n.-58G>A
XM_011524507.2:c.-58G>A	XP_011522809.1:n.-58G>A