Canonical Allele Identifier: CA8773408

Gene: UNC13D

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75841003T>C , CM000679.2:g.75841003T>C	GRCh38
NC_000017.10:g.73837084T>C , CM000679.1:g.73837084T>C	GRCh37
NC_000017.9:g.71348679T>C	NCBI36
NG_007266.1:g.8715A>G , LRG_122:g.8715A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_199242.3:c.570-2A>G MANE Select	NP_954712.1:n.570-2A>G
ENST00000207549.9:c.570-2A>G MANE Select	ENSP00000207549.3:n.570-2A>G
NM_199242.2:c.570-2A>G , LRG_122t1:c.570-2A>G	NP_954712.1:n.570-2A>G
ENST00000207549.8:c.570-2A>G	ENSP00000207549.3:n.570-2A>G
ENST00000412096.6:c.570-2A>G	ENSP00000388093.1:n.570-2A>G
ENST00000585574.5:n.575A>G
ENST00000585574.6:c.542A>G	ENSP00000514389.1:p.Gln181Arg
ENST00000586147.1:c.117+3218A>G	ENSP00000466543.1:n.117+3218A>G
ENST00000587495.1:n.154A>G
ENST00000587495.2:n.154A>G
ENST00000587504.5:n.535-2A>G
ENST00000587504.6:c.513-2A>G	ENSP00000514388.1:n.513-2A>G
ENST00000590762.5:c.513-2A>G	ENSP00000467653.1:n.513-2A>G
ENST00000591563.5:n.651-2A>G
ENST00000592386.5:c.549-2A>G	ENSP00000466826.1:n.549-2A>G
ENST00000592386.6:c.552-2A>G	ENSP00000466826.2:n.552-2A>G
XM_011524504.1:c.570-2A>G	XP_011522806.1:n.570-2A>G
XM_011524504.2:c.570-2A>G	XP_011522806.1:n.570-2A>G
XM_011524505.1:c.570-2A>G	XP_011522807.1:n.570-2A>G
XM_011524506.1:c.570-2A>G	XP_011522808.1:n.570-2A>G
XM_011524507.1:c.-40-2A>G	XP_011522809.1:n.-40-2A>G
XM_011524507.2:c.-40-2A>G	XP_011522809.1:n.-40-2A>G
XM_011524508.1:c.-40-2A>G	XP_011522810.1:n.-40-2A>G
XM_024450640.1:c.-40-2A>G	XP_024306408.1:n.-40-2A>G