Canonical Allele Identifier: CA401097821

Gene: UNC13D

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75836070G>A , CM000679.2:g.75836070G>A	GRCh38
NC_000017.10:g.73832151G>A , CM000679.1:g.73832151G>A	GRCh37
NC_000017.9:g.71343746G>A	NCBI36
NG_007266.1:g.13648C>T , LRG_122:g.13648C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_199242.3:c.1486C>T MANE Select	NP_954712.1:p.Gln496Ter
ENST00000207549.9:c.1486C>T MANE Select	ENSP00000207549.3:p.Gln496Ter
NM_199242.2:c.1486C>T , LRG_122t1:c.1486C>T	NP_954712.1:p.Gln496Ter
ENST00000207549.8:c.1486C>T	ENSP00000207549.3:p.Gln496Ter
ENST00000412096.6:c.1486C>T	ENSP00000388093.1:p.Gln496Ter
ENST00000586147.1:c.214C>T	ENSP00000466543.1:p.Gln72Ter
ENST00000587105.1:c.605C>T
ENST00000591563.5:n.1756C>T
ENST00000699510.1:c.421C>T	ENSP00000514405.1:p.Gln141Ter
ENST00000699511.1:c.663C>T
XM_011524504.1:c.1486C>T	XP_011522806.1:p.Gln496Ter
XM_011524504.2:c.1486C>T	XP_011522806.1:p.Gln496Ter
XM_011524505.1:c.1486C>T	XP_011522807.1:p.Gln496Ter
XM_011524506.1:c.1483C>T	XP_011522808.1:p.Gln495Ter
XM_011524507.1:c.877C>T	XP_011522809.1:p.Gln293Ter
XM_011524507.2:c.877C>T	XP_011522809.1:p.Gln293Ter
XM_011524508.1:c.877C>T	XP_011522810.1:p.Gln293Ter
XM_024450640.1:c.877C>T	XP_024306408.1:p.Gln293Ter