Canonical Allele Identifier: CA2639900355

Gene: UNC13D

Linked Data

• gnomAD v4: 17-75839980-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75839980G>C , CM000679.2:g.75839980G>C	GRCh38
NC_000017.10:g.73836061G>C , CM000679.1:g.73836061G>C	GRCh37
NC_000017.9:g.71347656G>C	NCBI36
NG_007266.1:g.9738C>G , LRG_122:g.9738C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000587504.6:c.933-38C>G	ENSP00000514388.1:n.933-38C>G
ENST00000699511.1:c.132-38C>G
ENST00000207549.9:c.952-38C>G MANE Select	ENSP00000207549.3:n.952-38C>G
ENST00000207549.8:c.952-38C>G	ENSP00000207549.3:n.952-38C>G
ENST00000412096.6:c.952-38C>G	ENSP00000388093.1:n.952-38C>G
ENST00000586147.1:c.118-3724C>G	ENSP00000466543.1:n.118-3724C>G
ENST00000587105.1:c.174-38C>G
ENST00000587504.5:n.955-38C>G
ENST00000591563.5:n.1184C>G
NM_199242.2:c.952-38C>G , LRG_122t1:c.952-38C>G	NP_954712.1:n.952-38C>G
XM_011524504.1:c.952-38C>G	XP_011522806.1:n.952-38C>G
XM_011524505.1:c.952-38C>G	XP_011522807.1:n.952-38C>G
XM_011524506.1:c.952-38C>G	XP_011522808.1:n.952-38C>G
XM_011524507.1:c.343-38C>G	XP_011522809.1:n.343-38C>G
XM_011524508.1:c.343-38C>G	XP_011522810.1:n.343-38C>G
XM_011524504.2:c.952-38C>G	XP_011522806.1:n.952-38C>G
XM_011524507.2:c.343-38C>G	XP_011522809.1:n.343-38C>G
XM_024450640.1:c.343-38C>G	XP_024306408.1:n.343-38C>G
NM_199242.3:c.952-38C>G MANE Select	NP_954712.1:n.952-38C>G