Canonical Allele Identifier: CA502050230

Gene: UNC13D

Linked Data

• MyVariant Identifiers: chr17:g.73832323T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75836242T>C , CM000679.2:g.75836242T>C	GRCh38
NC_000017.10:g.73832323T>C , CM000679.1:g.73832323T>C	GRCh37
NC_000017.9:g.71343918T>C	NCBI36
NG_007266.1:g.13476A>G , LRG_122:g.13476A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000699510.1:c.339A>G	ENSP00000514405.1:p.Glu113=
ENST00000699511.1:c.581A>G
ENST00000207549.9:c.1404A>G MANE Select	ENSP00000207549.3:p.Glu468=
ENST00000207549.8:c.1404A>G	ENSP00000207549.3:p.Glu468=
ENST00000412096.6:c.1404A>G	ENSP00000388093.1:p.Glu468=
ENST00000586147.1:c.132A>G	ENSP00000466543.1:p.Glu44=
ENST00000587105.1:c.523A>G
ENST00000591563.5:n.1674A>G
NM_199242.2:c.1404A>G , LRG_122t1:c.1404A>G	NP_954712.1:p.Glu468=
XM_011524504.1:c.1404A>G	XP_011522806.1:p.Glu468=
XM_011524505.1:c.1404A>G	XP_011522807.1:p.Glu468=
XM_011524506.1:c.1401A>G	XP_011522808.1:p.Glu467=
XM_011524507.1:c.795A>G	XP_011522809.1:p.Glu265=
XM_011524508.1:c.795A>G	XP_011522810.1:p.Glu265=
XM_011524504.2:c.1404A>G	XP_011522806.1:p.Glu468=
XM_011524507.2:c.795A>G	XP_011522809.1:p.Glu265=
XM_024450640.1:c.795A>G	XP_024306408.1:p.Glu265=
NM_199242.3:c.1404A>G MANE Select	NP_954712.1:p.Glu468=