Canonical Allele Identifier: CA401109938

Gene: UNC13D

Linked Data

• ClinVar Variation Id: 2846553
• ClinVar RCV Id: RCV003604830
• dbSNP Id: rs201908137
• gnomAD v2: 17-73836587-C-T
• gnomAD v4: 17-75840506-C-T
• COSMIC: COSM6082024
• MyVariant Identifiers: chr17:g.73836587C>T (hg19) ; chr17:g.75840506C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75840506C>T , CM000679.2:g.75840506C>T	GRCh38
NC_000017.10:g.73836587C>T , CM000679.1:g.73836587C>T	GRCh37
NC_000017.9:g.71348182C>T	NCBI36
NG_007266.1:g.9212G>A , LRG_122:g.9212G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000587504.6:c.696+1G>A	ENSP00000514388.1:n.696+1G>A
ENST00000592386.6:c.735+1G>A	ENSP00000466826.2:n.735+1G>A
ENST00000207549.9:c.753+1G>A MANE Select	ENSP00000207549.3:n.753+1G>A
ENST00000207549.8:c.753+1G>A	ENSP00000207549.3:n.753+1G>A
ENST00000412096.6:c.753+1G>A	ENSP00000388093.1:n.753+1G>A
ENST00000586147.1:c.117+3715G>A	ENSP00000466543.1:n.117+3715G>A
ENST00000587504.5:n.718+1G>A
ENST00000590762.5:c.696+1G>A	ENSP00000467653.1:n.696+1G>A
ENST00000591563.5:n.834+1G>A
ENST00000592386.5:c.732+1G>A	ENSP00000466826.1:n.732+1G>A
NM_199242.2:c.753+1G>A , LRG_122t1:c.753+1G>A	NP_954712.1:n.753+1G>A
XM_011524504.1:c.753+1G>A	XP_011522806.1:n.753+1G>A
XM_011524505.1:c.753+1G>A	XP_011522807.1:n.753+1G>A
XM_011524506.1:c.753+1G>A	XP_011522808.1:n.753+1G>A
XM_011524507.1:c.144+1G>A	XP_011522809.1:n.144+1G>A
XM_011524508.1:c.144+1G>A	XP_011522810.1:n.144+1G>A
XM_011524504.2:c.753+1G>A	XP_011522806.1:n.753+1G>A
XM_011524507.2:c.144+1G>A	XP_011522809.1:n.144+1G>A
XM_024450640.1:c.144+1G>A	XP_024306408.1:n.144+1G>A
NM_199242.3:c.753+1G>A MANE Select	NP_954712.1:n.753+1G>A