Canonical Allele Identifier: CA8773282

Gene: UNC13D

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75840330C>G , CM000679.2:g.75840330C>G	GRCh38
NC_000017.10:g.73836411C>G , CM000679.1:g.73836411C>G	GRCh37
NC_000017.9:g.71348006C>G	NCBI36
NG_007266.1:g.9388G>C , LRG_122:g.9388G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_199242.3:c.754-1G>C MANE Select	NP_954712.1:n.754-1G>C
ENST00000207549.9:c.754-1G>C MANE Select	ENSP00000207549.3:n.754-1G>C
NM_199242.2:c.754-1G>C , LRG_122t1:c.754-1G>C	NP_954712.1:n.754-1G>C
ENST00000207549.8:c.754-1G>C	ENSP00000207549.3:n.754-1G>C
ENST00000412096.6:c.754-1G>C	ENSP00000388093.1:n.754-1G>C
ENST00000586147.1:c.117+3891G>C	ENSP00000466543.1:n.117+3891G>C
ENST00000587504.5:n.756G>C
ENST00000587504.6:c.734G>C	ENSP00000514388.1:p.Arg245Thr
ENST00000590762.5:c.697-1G>C	ENSP00000467653.1:n.697-1G>C
ENST00000591563.5:n.835-1G>C
ENST00000592386.5:c.733-1G>C	ENSP00000466826.1:n.733-1G>C
ENST00000592386.6:c.736-1G>C	ENSP00000466826.2:n.736-1G>C
XM_011524504.1:c.754-1G>C	XP_011522806.1:n.754-1G>C
XM_011524504.2:c.754-1G>C	XP_011522806.1:n.754-1G>C
XM_011524505.1:c.754-1G>C	XP_011522807.1:n.754-1G>C
XM_011524506.1:c.754-1G>C	XP_011522808.1:n.754-1G>C
XM_011524507.1:c.145-1G>C	XP_011522809.1:n.145-1G>C
XM_011524507.2:c.145-1G>C	XP_011522809.1:n.145-1G>C
XM_011524508.1:c.145-1G>C	XP_011522810.1:n.145-1G>C
XM_024450640.1:c.145-1G>C	XP_024306408.1:n.145-1G>C