Canonical Allele Identifier: CA192695641
Gene: UNC13B HGNC NCBI

Linked Data

dbSNP Id: rs773656162
gnomAD v3: 9-35269800-C-G
gnomAD v4: 9-35269800-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.35269800C>G , CM000671.2:g.35269800C>G GRCh38
NC_000009.11:g.35269797C>G , CM000671.1:g.35269797C>G GRCh37
NC_000009.10:g.35259797C>G NCBI36
NG_033014.1:g.112809C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000635942.2:c.526+10750C>G MANE Select ENSP00000490228.1:n.526+10750C>G
ENST00000635942.1:c.526+10750C>G ENSP00000490228.1:n.526+10750C>G
ENST00000378495.7:c.526+10750C>G ENSP00000367756.3:n.526+10750C>G
ENST00000378496.8:c.-743+10750C>G ENSP00000367757.5:n.-743+10750C>G
ENST00000396787.5:c.526+10750C>G ENSP00000380006.1:n.526+10750C>G
ENST00000617908.4:c.-720+10750C>G ENSP00000484432.1:n.-720+10750C>G
ENST00000619578.4:c.526+10750C>G ENSP00000479261.1:n.526+10750C>G
ENST00000634487.1:c.526+10750C>G ENSP00000489581.1:n.526+10750C>G
NM_006377.3:c.526+10750C>G NP_006368.3:n.526+10750C>G
XM_011517684.1:c.526+10750C>G XP_011515986.1:n.526+10750C>G
XM_011517685.1:c.526+10750C>G XP_011515987.1:n.526+10750C>G
NM_001330653.1:c.526+10750C>G NP_001317582.1:n.526+10750C>G
XM_011517685.3:c.526+10750C>G XP_011515987.1:n.526+10750C>G
NM_001330653.2:c.526+10750C>G NP_001317582.1:n.526+10750C>G
NM_001371186.1:c.526+10750C>G NP_001358115.1:n.526+10750C>G
NM_001371189.1:c.526+10750C>G NP_001358118.1:n.526+10750C>G
NM_006377.5:c.526+10750C>G NP_006368.3:n.526+10750C>G
NM_001330653.3:c.526+10750C>G NP_001317582.1:n.526+10750C>G
NM_001371186.2:c.526+10750C>G NP_001358115.1:n.526+10750C>G
NM_001371189.2:c.526+10750C>G MANE Select NP_001358118.1:n.526+10750C>G
NM_001387551.1:c.526+10750C>G NP_001374480.1:n.526+10750C>G
NM_001387553.1:c.379+10750C>G NP_001374482.1:n.379+10750C>G
NM_001387554.1:c.379+10750C>G NP_001374483.1:n.379+10750C>G
NM_006377.6:c.526+10750C>G NP_006368.3:n.526+10750C>G
NR_170667.1:n.801+10750C>G