Canonical Allele Identifier: CA401115749

Gene: UNC13D

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75843012A>C , CM000679.2:g.75843012A>C	GRCh38
NC_000017.10:g.73839093A>C , CM000679.1:g.73839093A>C	GRCh37
NC_000017.9:g.71350688A>C	NCBI36
NG_007266.1:g.6706T>G , LRG_122:g.6706T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_199242.3:c.321+2T>G MANE Select	NP_954712.1:n.321+2T>G
ENST00000207549.9:c.321+2T>G MANE Select	ENSP00000207549.3:n.321+2T>G
NM_199242.2:c.321+2T>G , LRG_122t1:c.321+2T>G	NP_954712.1:n.321+2T>G
ENST00000207549.8:c.321+2T>G	ENSP00000207549.3:n.321+2T>G
ENST00000412096.6:c.321+2T>G	ENSP00000388093.1:n.321+2T>G
ENST00000585574.5:n.297+2T>G
ENST00000585574.6:c.264+2T>G	ENSP00000514389.1:n.264+2T>G
ENST00000586108.1:c.321+2T>G	ENSP00000464749.1:n.321+2T>G
ENST00000586147.1:c.117+1209T>G	ENSP00000466543.1:n.117+1209T>G
ENST00000587504.5:n.286+2T>G
ENST00000587504.6:c.264+2T>G	ENSP00000514388.1:n.264+2T>G
ENST00000590762.5:c.264+2T>G	ENSP00000467653.1:n.264+2T>G
ENST00000591563.5:n.402+2T>G
ENST00000592386.5:c.300+2T>G	ENSP00000466826.1:n.300+2T>G
ENST00000592386.6:c.303+2T>G	ENSP00000466826.2:n.303+2T>G
ENST00000699512.1:c.157-89T>G	ENSP00000514407.1:n.157-89T>G
ENST00000699513.1:c.321+2T>G	ENSP00000514408.1:n.321+2T>G
XM_011524504.1:c.321+2T>G	XP_011522806.1:n.321+2T>G
XM_011524504.2:c.321+2T>G	XP_011522806.1:n.321+2T>G
XM_011524505.1:c.321+2T>G	XP_011522807.1:n.321+2T>G
XM_011524506.1:c.321+2T>G	XP_011522808.1:n.321+2T>G
XM_011524507.1:c.-289+2T>G	XP_011522809.1:n.-289+2T>G
XM_011524507.2:c.-289+2T>G	XP_011522809.1:n.-289+2T>G