Canonical Allele Identifier: CA2639896739

Gene: UNC13D

Linked Data

• gnomAD v4: 17-75836167-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75836167A>T , CM000679.2:g.75836167A>T	GRCh38
NC_000017.10:g.73832248A>T , CM000679.1:g.73832248A>T	GRCh37
NC_000017.9:g.71343843A>T	NCBI36
NG_007266.1:g.13551T>A , LRG_122:g.13551T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699510.1:c.381+33T>A	ENSP00000514405.1:n.381+33T>A
ENST00000699511.1:c.623+33T>A
ENST00000207549.9:c.1446+33T>A MANE Select	ENSP00000207549.3:n.1446+33T>A
ENST00000207549.8:c.1446+33T>A	ENSP00000207549.3:n.1446+33T>A
ENST00000412096.6:c.1446+33T>A	ENSP00000388093.1:n.1446+33T>A
ENST00000586147.1:c.174+33T>A	ENSP00000466543.1:n.174+33T>A
ENST00000587105.1:c.565+33T>A
ENST00000591563.5:n.1716+33T>A
NM_199242.2:c.1446+33T>A , LRG_122t1:c.1446+33T>A	NP_954712.1:n.1446+33T>A
XM_011524504.1:c.1446+33T>A	XP_011522806.1:n.1446+33T>A
XM_011524505.1:c.1446+33T>A	XP_011522807.1:n.1446+33T>A
XM_011524506.1:c.1443+33T>A	XP_011522808.1:n.1443+33T>A
XM_011524507.1:c.837+33T>A	XP_011522809.1:n.837+33T>A
XM_011524508.1:c.837+33T>A	XP_011522810.1:n.837+33T>A
XM_011524504.2:c.1446+33T>A	XP_011522806.1:n.1446+33T>A
XM_011524507.2:c.837+33T>A	XP_011522809.1:n.837+33T>A
XM_024450640.1:c.837+33T>A	XP_024306408.1:n.837+33T>A
NM_199242.3:c.1446+33T>A MANE Select	NP_954712.1:n.1446+33T>A