Canonical Allele Identifier: CA8773280

Gene: UNC13D

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75840323G>A , CM000679.2:g.75840323G>A	GRCh38
NC_000017.10:g.73836404G>A , CM000679.1:g.73836404G>A	GRCh37
NC_000017.9:g.71347999G>A	NCBI36
NG_007266.1:g.9395C>T , LRG_122:g.9395C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_199242.3:c.760C>T MANE Select	NP_954712.1:p.Arg254Cys
ENST00000207549.9:c.760C>T MANE Select	ENSP00000207549.3:p.Arg254Cys
NM_199242.2:c.760C>T , LRG_122t1:c.760C>T	NP_954712.1:p.Arg254Cys
ENST00000207549.8:c.760C>T	ENSP00000207549.3:p.Arg254Cys
ENST00000412096.6:c.760C>T	ENSP00000388093.1:p.Arg254Cys
ENST00000586147.1:c.117+3898C>T	ENSP00000466543.1:n.117+3898C>T
ENST00000587504.5:n.763C>T
ENST00000587504.6:c.741C>T	ENSP00000514388.1:p.Cys247=
ENST00000590762.5:c.703C>T	ENSP00000467653.1:p.Arg235Cys
ENST00000591563.5:n.841C>T
ENST00000592386.5:c.739C>T	ENSP00000466826.1:p.Arg247Cys
ENST00000592386.6:c.742C>T	ENSP00000466826.2:p.Arg248Cys
XM_011524504.1:c.760C>T	XP_011522806.1:p.Arg254Cys
XM_011524504.2:c.760C>T	XP_011522806.1:p.Arg254Cys
XM_011524505.1:c.760C>T	XP_011522807.1:p.Arg254Cys
XM_011524506.1:c.760C>T	XP_011522808.1:p.Arg254Cys
XM_011524507.1:c.151C>T	XP_011522809.1:p.Arg51Cys
XM_011524507.2:c.151C>T	XP_011522809.1:p.Arg51Cys
XM_011524508.1:c.151C>T	XP_011522810.1:p.Arg51Cys
XM_024450640.1:c.151C>T	XP_024306408.1:p.Arg51Cys