Canonical Allele Identifier: CA8772432
Gene: UNC13D HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.75830592G>A
GRCh37 chr17:g.73826673G>A
gnomAD v2:
17:73826673 G / A
gnomAD v3:
17:75830592 G / A
gnomAD v4:
chr17-75830592-G-A
Joint Max Group AF 0.00001054 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00001033 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75830592G>A , CM000679.2:g.75830592G>A GRCh38
NC_000017.10:g.73826673G>A , CM000679.1:g.73826673G>A GRCh37
NC_000017.9:g.71338268G>A NCBI36
NG_007266.1:g.19126C>T , LRG_122:g.19126C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000699510.1:c.1561C>T ENSP00000514405.1:p.Arg521Ter
ENST00000207549.9:c.2695C>T MANE Select ENSP00000207549.3:p.Arg899Ter
ENST00000207549.8:c.2695C>T ENSP00000207549.3:p.Arg899Ter
ENST00000412096.6:c.2695C>T ENSP00000388093.1:p.Arg899Ter
ENST00000590856.1:n.70C>T
NM_199242.2:c.2695C>T , LRG_122t1:c.2695C>T NP_954712.1:p.Arg899Ter
XM_011524504.1:c.2764C>T XP_011522806.1:p.Arg922Ter
XM_011524505.1:c.2764C>T XP_011522807.1:p.Arg922Ter
XM_011524506.1:c.2761C>T XP_011522808.1:p.Arg921Ter
XM_011524507.1:c.2155C>T XP_011522809.1:p.Arg719Ter
XM_011524508.1:c.2155C>T XP_011522810.1:p.Arg719Ter
XM_011524504.2:c.2764C>T XP_011522806.1:p.Arg922Ter
XM_011524507.2:c.2155C>T XP_011522809.1:p.Arg719Ter
XM_024450640.1:c.2155C>T XP_024306408.1:p.Arg719Ter
NM_199242.3:c.2695C>T MANE Select NP_954712.1:p.Arg899Ter
Search 100 bp 5'
Search 100 bp 3'