Canonical Allele Identifier: CA2325963956
Gene: UNC13A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17652081G>C , CM000681.2:g.17652081G>C GRCh38
NC_000019.9:g.17762890G>C , CM000681.1:g.17762890G>C GRCh37
NC_000019.8:g.17623890G>C NCBI36
NG_052872.1:g.41264C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000519716.7:c.1439+550C>G MANE Select ENSP00000429562.2:n.1439+550C>G
ENST00000252773.11:c.1439+550C>G ENSP00000252773.8:n.1439+550C>G
ENST00000519716.6:c.1439+550C>G ENSP00000429562.2:n.1439+550C>G
ENST00000550896.1:c.1439+550C>G ENSP00000446831.1:n.1439+550C>G
ENST00000551649.5:c.1439+550C>G ENSP00000447236.1:n.1439+550C>G
ENST00000552293.5:c.1439+550C>G ENSP00000447572.1:n.1439+550C>G
NM_001080421.2:c.1439+550C>G NP_001073890.2:n.1439+550C>G
XM_011527809.1:c.1439+550C>G XP_011526111.1:n.1439+550C>G
XM_011527810.1:c.1409+550C>G XP_011526112.1:n.1409+550C>G
XM_011527811.1:c.1439+550C>G XP_011526113.1:n.1439+550C>G
XM_011527812.1:c.680+550C>G XP_011526114.1:n.680+550C>G
XM_011527813.1:c.1439+550C>G XP_011526115.1:n.1439+550C>G
XM_011527810.2:c.1409+550C>G XP_011526112.1:n.1409+550C>G
XM_011527811.2:c.1439+550C>G XP_011526113.1:n.1439+550C>G
XM_017026502.1:c.1439+550C>G XP_016881991.1:n.1439+550C>G
NM_001080421.3:c.1439+550C>G MANE Select NP_001073890.2:n.1439+550C>G
NM_001387021.1:c.1439+550C>G NP_001373950.1:n.1439+550C>G
NM_001387022.1:c.1439+550C>G NP_001373951.1:n.1439+550C>G
NM_001387023.1:c.1439+550C>G NP_001373952.1:n.1439+550C>G