Canonical Allele Identifier: CA502050264

Gene: UNC13D

Linked Data

• ClinVar Variation Id: 2783419
• ClinVar RCV Id: RCV003603281
• MyVariant Identifiers: chr17:g.73832429C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75836348C>T , CM000679.2:g.75836348C>T	GRCh38
NC_000017.10:g.73832429C>T , CM000679.1:g.73832429C>T	GRCh37
NC_000017.9:g.71344024C>T	NCBI36
NG_007266.1:g.13370G>A , LRG_122:g.13370G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000699510.1:c.315G>A	ENSP00000514405.1:p.Glu105=
ENST00000699511.1:c.557G>A
ENST00000207549.9:c.1380G>A MANE Select	ENSP00000207549.3:p.Glu460=
ENST00000207549.8:c.1380G>A	ENSP00000207549.3:p.Glu460=
ENST00000412096.6:c.1380G>A	ENSP00000388093.1:p.Glu460=
ENST00000586147.1:c.118-92G>A	ENSP00000466543.1:n.118-92G>A
ENST00000587105.1:c.499G>A
ENST00000591563.5:n.1650G>A
NM_199242.2:c.1380G>A , LRG_122t1:c.1380G>A	NP_954712.1:p.Glu460=
XM_011524504.1:c.1380G>A	XP_011522806.1:p.Glu460=
XM_011524505.1:c.1380G>A	XP_011522807.1:p.Glu460=
XM_011524506.1:c.1377G>A	XP_011522808.1:p.Glu459=
XM_011524507.1:c.771G>A	XP_011522809.1:p.Glu257=
XM_011524508.1:c.771G>A	XP_011522810.1:p.Glu257=
XM_011524504.2:c.1380G>A	XP_011522806.1:p.Glu460=
XM_011524507.2:c.771G>A	XP_011522809.1:p.Glu257=
XM_024450640.1:c.771G>A	XP_024306408.1:p.Glu257=
NM_199242.3:c.1380G>A MANE Select	NP_954712.1:p.Glu460=