Canonical Allele Identifier: CA587236049
Gene: UNC13B HGNC NCBI

Linked Data

dbSNP Id: rs1161517478
gnomAD v2: 9-35269852-G-C
gnomAD v3: 9-35269855-G-C
gnomAD v4: 9-35269855-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35269855G>C , CM000671.2:g.35269855G>C GRCh38
NC_000009.11:g.35269852G>C , CM000671.1:g.35269852G>C GRCh37
NC_000009.10:g.35259852G>C NCBI36
NG_033014.1:g.112864G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000635942.2:c.526+10805G>C MANE Select ENSP00000490228.1:n.526+10805G>C
ENST00000635942.1:c.526+10805G>C ENSP00000490228.1:n.526+10805G>C
ENST00000378495.7:c.526+10805G>C ENSP00000367756.3:n.526+10805G>C
ENST00000378496.8:c.-743+10805G>C ENSP00000367757.5:n.-743+10805G>C
ENST00000396787.5:c.526+10805G>C ENSP00000380006.1:n.526+10805G>C
ENST00000617908.4:c.-720+10805G>C ENSP00000484432.1:n.-720+10805G>C
ENST00000619578.4:c.526+10805G>C ENSP00000479261.1:n.526+10805G>C
ENST00000634487.1:c.526+10805G>C ENSP00000489581.1:n.526+10805G>C
NM_006377.3:c.526+10805G>C NP_006368.3:n.526+10805G>C
XM_011517684.1:c.526+10805G>C XP_011515986.1:n.526+10805G>C
XM_011517685.1:c.526+10805G>C XP_011515987.1:n.526+10805G>C
NM_001330653.1:c.526+10805G>C NP_001317582.1:n.526+10805G>C
XM_011517685.3:c.526+10805G>C XP_011515987.1:n.526+10805G>C
NM_001330653.2:c.526+10805G>C NP_001317582.1:n.526+10805G>C
NM_001371186.1:c.526+10805G>C NP_001358115.1:n.526+10805G>C
NM_001371189.1:c.526+10805G>C NP_001358118.1:n.526+10805G>C
NM_006377.5:c.526+10805G>C NP_006368.3:n.526+10805G>C
NM_001330653.3:c.526+10805G>C NP_001317582.1:n.526+10805G>C
NM_001371186.2:c.526+10805G>C NP_001358115.1:n.526+10805G>C
NM_001371189.2:c.526+10805G>C MANE Select NP_001358118.1:n.526+10805G>C
NM_001387551.1:c.526+10805G>C NP_001374480.1:n.526+10805G>C
NM_001387553.1:c.379+10805G>C NP_001374482.1:n.379+10805G>C
NM_001387554.1:c.379+10805G>C NP_001374483.1:n.379+10805G>C
NM_006377.6:c.526+10805G>C NP_006368.3:n.526+10805G>C
NR_170667.1:n.801+10805G>C