Canonical Allele Identifier: CA502050254

Gene: UNC13D

Linked Data

• ClinVar Variation Id: 2719709
• ClinVar RCV Id: RCV003499246
• gnomAD v4: 17-75836248-G-A
• MyVariant Identifiers: chr17:g.73832329G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75836248G>A , CM000679.2:g.75836248G>A	GRCh38
NC_000017.10:g.73832329G>A , CM000679.1:g.73832329G>A	GRCh37
NC_000017.9:g.71343924G>A	NCBI36
NG_007266.1:g.13470C>T , LRG_122:g.13470C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000699510.1:c.333C>T	ENSP00000514405.1:p.Thr111=
ENST00000699511.1:c.575C>T
ENST00000207549.9:c.1398C>T MANE Select	ENSP00000207549.3:p.Thr466=
ENST00000207549.8:c.1398C>T	ENSP00000207549.3:p.Thr466=
ENST00000412096.6:c.1398C>T	ENSP00000388093.1:p.Thr466=
ENST00000586147.1:c.126C>T	ENSP00000466543.1:p.Thr42=
ENST00000587105.1:c.517C>T
ENST00000591563.5:n.1668C>T
NM_199242.2:c.1398C>T , LRG_122t1:c.1398C>T	NP_954712.1:p.Thr466=
XM_011524504.1:c.1398C>T	XP_011522806.1:p.Thr466=
XM_011524505.1:c.1398C>T	XP_011522807.1:p.Thr466=
XM_011524506.1:c.1395C>T	XP_011522808.1:p.Thr465=
XM_011524507.1:c.789C>T	XP_011522809.1:p.Thr263=
XM_011524508.1:c.789C>T	XP_011522810.1:p.Thr263=
XM_011524504.2:c.1398C>T	XP_011522806.1:p.Thr466=
XM_011524507.2:c.789C>T	XP_011522809.1:p.Thr263=
XM_024450640.1:c.789C>T	XP_024306408.1:p.Thr263=
NM_199242.3:c.1398C>T MANE Select	NP_954712.1:p.Thr466=