Canonical Allele Identifier: CA252034
Gene: UNC13D HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.75840506C>A
GRCh37 chr17:g.73836587C>A
gnomAD v2:
17:73836587 C / A
gnomAD v3:
17:75840506 C / A
gnomAD v4:
chr17-75840506-C-A
Joint Max Group AF 0.00005875 (NFE)
Genomes Max Group AF 0.00002259 (AMR)
Exomes Max Group AF 0.00005884 (NFE)
ClinVar Allele:
17040
ClinVar RCV:
RCV000002078
RCV000288588
ClinVar Variation:
2001
dbSNP:
201908137
JSON-LD

Genomic Alleles

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

Transcript Alleles

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