Canonical Allele Identifier: CA8773195

Gene: UNC13D

Linked Data

• dbSNP Id: rs553694191
• ExAC: 17:73836069 C / T
• gnomAD v2: 17-73836069-C-T
• gnomAD v3: 17-75839988-C-T
• gnomAD v4: 17-75839988-C-T
• MyVariant Identifiers: chr17:g.73836069C>T (hg19) ; chr17:g.75839988C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75839988C>T , CM000679.2:g.75839988C>T	GRCh38
NC_000017.10:g.73836069C>T , CM000679.1:g.73836069C>T	GRCh37
NC_000017.9:g.71347664C>T	NCBI36
NG_007266.1:g.9730G>A , LRG_122:g.9730G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000587504.6:c.932+30G>A	ENSP00000514388.1:n.932+30G>A
ENST00000699511.1:c.131+30G>A
ENST00000207549.9:c.951+30G>A MANE Select	ENSP00000207549.3:n.951+30G>A
ENST00000207549.8:c.951+30G>A	ENSP00000207549.3:n.951+30G>A
ENST00000412096.6:c.951+30G>A	ENSP00000388093.1:n.951+30G>A
ENST00000586147.1:c.118-3732G>A	ENSP00000466543.1:n.118-3732G>A
ENST00000587105.1:c.173+30G>A
ENST00000587504.5:n.954+30G>A
ENST00000591563.5:n.1176G>A
NM_199242.2:c.951+30G>A , LRG_122t1:c.951+30G>A	NP_954712.1:n.951+30G>A
XM_011524504.1:c.951+30G>A	XP_011522806.1:n.951+30G>A
XM_011524505.1:c.951+30G>A	XP_011522807.1:n.951+30G>A
XM_011524506.1:c.951+30G>A	XP_011522808.1:n.951+30G>A
XM_011524507.1:c.342+30G>A	XP_011522809.1:n.342+30G>A
XM_011524508.1:c.342+30G>A	XP_011522810.1:n.342+30G>A
XM_011524504.2:c.951+30G>A	XP_011522806.1:n.951+30G>A
XM_011524507.2:c.342+30G>A	XP_011522809.1:n.342+30G>A
XM_024450640.1:c.342+30G>A	XP_024306408.1:n.342+30G>A
NM_199242.3:c.951+30G>A MANE Select	NP_954712.1:n.951+30G>A