Canonical Allele Identifier: CA2639898136

Gene: UNC13D

Linked Data

• gnomAD v4: 17-75843734-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75843734A>G , CM000679.2:g.75843734A>G	GRCh38
NC_000017.10:g.73839815A>G , CM000679.1:g.73839815A>G	GRCh37
NC_000017.9:g.71351410A>G	NCBI36
NG_007266.1:g.5984T>C , LRG_122:g.5984T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000585574.6:c.-12T>C	ENSP00000514389.1:n.-12T>C
ENST00000587504.6:c.-12T>C	ENSP00000514388.1:n.-12T>C
ENST00000588774.2:n.690T>C
ENST00000592386.6:c.118-215T>C	ENSP00000466826.2:n.118-215T>C
ENST00000699512.1:c.13-215T>C	ENSP00000514407.1:n.13-215T>C
ENST00000699513.1:c.118-215T>C	ENSP00000514408.1:n.118-215T>C
ENST00000207549.9:c.118-215T>C MANE Select	ENSP00000207549.3:n.118-215T>C
ENST00000207549.8:c.118-215T>C	ENSP00000207549.3:n.118-215T>C
ENST00000412096.6:c.118-215T>C	ENSP00000388093.1:n.118-215T>C
ENST00000585574.5:n.22T>C
ENST00000586108.1:c.118-215T>C	ENSP00000464749.1:n.118-215T>C
ENST00000586147.1:c.117+487T>C	ENSP00000466543.1:n.117+487T>C
ENST00000587504.5:n.11T>C
ENST00000588774.1:n.580T>C
ENST00000590762.5:c.-12T>C	ENSP00000467653.1:n.-12T>C
ENST00000591563.5:n.199-215T>C
ENST00000592386.5:c.115-215T>C	ENSP00000466826.1:n.115-215T>C
NM_199242.2:c.118-215T>C , LRG_122t1:c.118-215T>C	NP_954712.1:n.118-215T>C
XM_011524504.1:c.118-215T>C	XP_011522806.1:n.118-215T>C
XM_011524505.1:c.118-215T>C	XP_011522807.1:n.118-215T>C
XM_011524506.1:c.118-215T>C	XP_011522808.1:n.118-215T>C
XM_011524507.1:c.-707T>C	XP_011522809.1:n.-707T>C
XM_011524504.2:c.118-215T>C	XP_011522806.1:n.118-215T>C
XM_011524507.2:c.-707T>C	XP_011522809.1:n.-707T>C
NM_199242.3:c.118-215T>C MANE Select	NP_954712.1:n.118-215T>C