Canonical Allele Identifier: CA8773007
Community Standard Title: NM_199242.3(UNC13D):c.1389+12G>A
Gene: UNC13D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75836327C>T , CM000679.2:g.75836327C>T GRCh38
NC_000017.10:g.73832408C>T , CM000679.1:g.73832408C>T GRCh37
NC_000017.9:g.71344003C>T NCBI36
NG_007266.1:g.13391G>A , LRG_122:g.13391G>A

Transcript Alleles

HGVS Amino-acid Change
NM_199242.3:c.1389+12G>A MANE Select NP_954712.1:n.1389+12G>A
ENST00000207549.9:c.1389+12G>A MANE Select ENSP00000207549.3:n.1389+12G>A
NM_199242.2:c.1389+12G>A , LRG_122t1:c.1389+12G>A NP_954712.1:n.1389+12G>A
ENST00000207549.8:c.1389+12G>A ENSP00000207549.3:n.1389+12G>A
ENST00000412096.6:c.1389+12G>A ENSP00000388093.1:n.1389+12G>A
ENST00000586147.1:c.118-71G>A ENSP00000466543.1:n.118-71G>A
ENST00000587105.1:c.508+12G>A
ENST00000591563.5:n.1659+12G>A
ENST00000699510.1:c.324+12G>A ENSP00000514405.1:n.324+12G>A
ENST00000699511.1:c.566+12G>A
XM_011524504.1:c.1389+12G>A XP_011522806.1:n.1389+12G>A
XM_011524504.2:c.1389+12G>A XP_011522806.1:n.1389+12G>A
XM_011524505.1:c.1389+12G>A XP_011522807.1:n.1389+12G>A
XM_011524506.1:c.1386+12G>A XP_011522808.1:n.1386+12G>A
XM_011524507.1:c.780+12G>A XP_011522809.1:n.780+12G>A
XM_011524507.2:c.780+12G>A XP_011522809.1:n.780+12G>A
XM_011524508.1:c.780+12G>A XP_011522810.1:n.780+12G>A
XM_024450640.1:c.780+12G>A XP_024306408.1:n.780+12G>A