Canonical Allele Identifier: CA2275708732

Gene: UNC13D

Linked Data

• dbSNP Id: rs2064935886
• gnomAD v4: 17-75839976-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75839976G>A , CM000679.2:g.75839976G>A	GRCh38
NC_000017.10:g.73836057G>A , CM000679.1:g.73836057G>A	GRCh37
NC_000017.9:g.71347652G>A	NCBI36
NG_007266.1:g.9742C>T , LRG_122:g.9742C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000587504.6:c.933-34C>T	ENSP00000514388.1:n.933-34C>T
ENST00000699511.1:c.132-34C>T
ENST00000207549.9:c.952-34C>T MANE Select	ENSP00000207549.3:n.952-34C>T
ENST00000207549.8:c.952-34C>T	ENSP00000207549.3:n.952-34C>T
ENST00000412096.6:c.952-34C>T	ENSP00000388093.1:n.952-34C>T
ENST00000586147.1:c.118-3720C>T	ENSP00000466543.1:n.118-3720C>T
ENST00000587105.1:c.174-34C>T
ENST00000587504.5:n.955-34C>T
ENST00000591563.5:n.1188C>T
NM_199242.2:c.952-34C>T , LRG_122t1:c.952-34C>T	NP_954712.1:n.952-34C>T
XM_011524504.1:c.952-34C>T	XP_011522806.1:n.952-34C>T
XM_011524505.1:c.952-34C>T	XP_011522807.1:n.952-34C>T
XM_011524506.1:c.952-34C>T	XP_011522808.1:n.952-34C>T
XM_011524507.1:c.343-34C>T	XP_011522809.1:n.343-34C>T
XM_011524508.1:c.343-34C>T	XP_011522810.1:n.343-34C>T
XM_011524504.2:c.952-34C>T	XP_011522806.1:n.952-34C>T
XM_011524507.2:c.343-34C>T	XP_011522809.1:n.343-34C>T
XM_024450640.1:c.343-34C>T	XP_024306408.1:n.343-34C>T
NM_199242.3:c.952-34C>T MANE Select	NP_954712.1:n.952-34C>T