Canonical Allele Identifier: CA8773631
Community Standard Title: NM_199242.3(UNC13D):c.118-9G>C
Gene: UNC13D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75843528C>G , CM000679.2:g.75843528C>G GRCh38
NC_000017.10:g.73839609C>G , CM000679.1:g.73839609C>G GRCh37
NC_000017.9:g.71351204C>G NCBI36
NG_007266.1:g.6190G>C , LRG_122:g.6190G>C

Transcript Alleles

HGVS Amino-acid Change
NM_199242.3:c.118-9G>C MANE Select NP_954712.1:n.118-9G>C
ENST00000207549.9:c.118-9G>C MANE Select ENSP00000207549.3:n.118-9G>C
NM_199242.2:c.118-9G>C , LRG_122t1:c.118-9G>C NP_954712.1:n.118-9G>C
ENST00000207549.8:c.118-9G>C ENSP00000207549.3:n.118-9G>C
ENST00000412096.6:c.118-9G>C ENSP00000388093.1:n.118-9G>C
ENST00000585574.5:n.94-9G>C
ENST00000585574.6:c.61-9G>C ENSP00000514389.1:n.61-9G>C
ENST00000586108.1:c.118-9G>C ENSP00000464749.1:n.118-9G>C
ENST00000586147.1:c.117+693G>C ENSP00000466543.1:n.117+693G>C
ENST00000587504.5:n.83-9G>C
ENST00000587504.6:c.61-9G>C ENSP00000514388.1:n.61-9G>C
ENST00000588774.1:n.786G>C
ENST00000588774.2:n.896G>C
ENST00000590762.5:c.61-9G>C ENSP00000467653.1:n.61-9G>C
ENST00000591563.5:n.199-9G>C
ENST00000592386.5:c.115-9G>C ENSP00000466826.1:n.115-9G>C
ENST00000592386.6:c.118-9G>C ENSP00000466826.2:n.118-9G>C
ENST00000699512.1:c.13-9G>C ENSP00000514407.1:n.13-9G>C
ENST00000699513.1:c.118-9G>C ENSP00000514408.1:n.118-9G>C
XM_011524504.1:c.118-9G>C XP_011522806.1:n.118-9G>C
XM_011524504.2:c.118-9G>C XP_011522806.1:n.118-9G>C
XM_011524505.1:c.118-9G>C XP_011522807.1:n.118-9G>C
XM_011524506.1:c.118-9G>C XP_011522808.1:n.118-9G>C
XM_011524507.1:c.-501G>C XP_011522809.1:n.-501G>C
XM_011524507.2:c.-501G>C XP_011522809.1:n.-501G>C