Canonical Allele Identifier: CA294089613

Gene: UNC13D

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75840956C>A , CM000679.2:g.75840956C>A	GRCh38
NC_000017.10:g.73837037C>A , CM000679.1:g.73837037C>A	GRCh37
NC_000017.9:g.71348632C>A	NCBI36
NG_007266.1:g.8762G>T , LRG_122:g.8762G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_199242.3:c.614+1G>T MANE Select	NP_954712.1:n.614+1G>T
ENST00000207549.9:c.614+1G>T MANE Select	ENSP00000207549.3:n.614+1G>T
NM_199242.2:c.614+1G>T , LRG_122t1:c.614+1G>T	NP_954712.1:n.614+1G>T
ENST00000207549.8:c.614+1G>T	ENSP00000207549.3:n.614+1G>T
ENST00000412096.6:c.614+1G>T	ENSP00000388093.1:n.614+1G>T
ENST00000585574.5:n.621+1G>T
ENST00000585574.6:c.*36+1G>T	ENSP00000514389.1:n.*36+1G>T
ENST00000586147.1:c.117+3265G>T	ENSP00000466543.1:n.117+3265G>T
ENST00000587495.1:n.200+1G>T
ENST00000587495.2:n.200+1G>T
ENST00000587504.5:n.579+1G>T
ENST00000587504.6:c.557+1G>T	ENSP00000514388.1:n.557+1G>T
ENST00000590762.5:c.557+1G>T	ENSP00000467653.1:n.557+1G>T
ENST00000591563.5:n.695+1G>T
ENST00000592386.5:c.593+1G>T	ENSP00000466826.1:n.593+1G>T
ENST00000592386.6:c.596+1G>T	ENSP00000466826.2:n.596+1G>T
XM_011524504.1:c.614+1G>T	XP_011522806.1:n.614+1G>T
XM_011524504.2:c.614+1G>T	XP_011522806.1:n.614+1G>T
XM_011524505.1:c.614+1G>T	XP_011522807.1:n.614+1G>T
XM_011524506.1:c.614+1G>T	XP_011522808.1:n.614+1G>T
XM_011524507.1:c.5+1G>T	XP_011522809.1:n.5+1G>T
XM_011524507.2:c.5+1G>T	XP_011522809.1:n.5+1G>T
XM_011524508.1:c.5+1G>T	XP_011522810.1:n.5+1G>T
XM_024450640.1:c.5+1G>T	XP_024306408.1:n.5+1G>T