Canonical Allele Identifier: CA401110050

Gene: UNC13D

Linked Data

• ClinVar Variation Id: 2002746
• ClinVar RCV Id: RCV002824823
• MyVariant Identifiers: chr17:g.73836595C>T (hg19) ; chr17:g.75840514C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75840514C>T , CM000679.2:g.75840514C>T	GRCh38
NC_000017.10:g.73836595C>T , CM000679.1:g.73836595C>T	GRCh37
NC_000017.9:g.71348190C>T	NCBI36
NG_007266.1:g.9204G>A , LRG_122:g.9204G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000585574.6:c.*168G>A	ENSP00000514389.1:n.*168G>A
ENST00000587504.6:c.689G>A	ENSP00000514388.1:p.Arg230Lys
ENST00000592386.6:c.728G>A	ENSP00000466826.2:p.Arg243Lys
ENST00000207549.9:c.746G>A MANE Select	ENSP00000207549.3:p.Arg249Lys
ENST00000207549.8:c.746G>A	ENSP00000207549.3:p.Arg249Lys
ENST00000412096.6:c.746G>A	ENSP00000388093.1:p.Arg249Lys
ENST00000586147.1:c.117+3707G>A	ENSP00000466543.1:n.117+3707G>A
ENST00000587504.5:n.711G>A
ENST00000590762.5:c.689G>A	ENSP00000467653.1:p.Arg230Lys
ENST00000591563.5:n.827G>A
ENST00000592386.5:c.725G>A	ENSP00000466826.1:p.Arg242Lys
NM_199242.2:c.746G>A , LRG_122t1:c.746G>A	NP_954712.1:p.Arg249Lys
XM_011524504.1:c.746G>A	XP_011522806.1:p.Arg249Lys
XM_011524505.1:c.746G>A	XP_011522807.1:p.Arg249Lys
XM_011524506.1:c.746G>A	XP_011522808.1:p.Arg249Lys
XM_011524507.1:c.137G>A	XP_011522809.1:p.Arg46Lys
XM_011524508.1:c.137G>A	XP_011522810.1:p.Arg46Lys
XM_011524504.2:c.746G>A	XP_011522806.1:p.Arg249Lys
XM_011524507.2:c.137G>A	XP_011522809.1:p.Arg46Lys
XM_024450640.1:c.137G>A	XP_024306408.1:p.Arg46Lys
NM_199242.3:c.746G>A MANE Select	NP_954712.1:p.Arg249Lys