Canonical Allele Identifier: CA2558004101

Gene: UNC13D

Linked Data

• gnomAD v4: 17-75843827-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75843827G>C , CM000679.2:g.75843827G>C	GRCh38
NC_000017.10:g.73839908G>C , CM000679.1:g.73839908G>C	GRCh37
NC_000017.9:g.71351503G>C	NCBI36
NG_007266.1:g.5891C>G , LRG_122:g.5891C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000588774.2:n.597C>G
ENST00000592386.6:c.118-308C>G	ENSP00000466826.2:n.118-308C>G
ENST00000699512.1:c.13-308C>G	ENSP00000514407.1:n.13-308C>G
ENST00000699513.1:c.118-308C>G	ENSP00000514408.1:n.118-308C>G
ENST00000207549.9:c.118-308C>G MANE Select	ENSP00000207549.3:n.118-308C>G
ENST00000207549.8:c.118-308C>G	ENSP00000207549.3:n.118-308C>G
ENST00000412096.6:c.118-308C>G	ENSP00000388093.1:n.118-308C>G
ENST00000586108.1:c.118-308C>G	ENSP00000464749.1:n.118-308C>G
ENST00000586147.1:c.117+394C>G	ENSP00000466543.1:n.117+394C>G
ENST00000588774.1:n.487C>G
ENST00000591563.5:n.199-308C>G
ENST00000592386.5:c.115-308C>G	ENSP00000466826.1:n.115-308C>G
NM_199242.2:c.118-308C>G , LRG_122t1:c.118-308C>G	NP_954712.1:n.118-308C>G
XM_011524504.1:c.118-308C>G	XP_011522806.1:n.118-308C>G
XM_011524505.1:c.118-308C>G	XP_011522807.1:n.118-308C>G
XM_011524506.1:c.118-308C>G	XP_011522808.1:n.118-308C>G
XM_011524507.1:c.-800C>G	XP_011522809.1:n.-800C>G
XM_011524504.2:c.118-308C>G	XP_011522806.1:n.118-308C>G
XM_011524507.2:c.-800C>G	XP_011522809.1:n.-800C>G
NM_199242.3:c.118-308C>G MANE Select	NP_954712.1:n.118-308C>G