Canonical Allele Identifier: CA2576393070
Gene: UNC13D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75836154A>C , CM000679.2:g.75836154A>C GRCh38
NC_000017.10:g.73832235A>C , CM000679.1:g.73832235A>C GRCh37
NC_000017.9:g.71343830A>C NCBI36
NG_007266.1:g.13564T>G , LRG_122:g.13564T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000699510.1:c.382-45T>G ENSP00000514405.1:n.382-45T>G
ENST00000699511.1:c.624-45T>G
ENST00000207549.9:c.1447-45T>G MANE Select ENSP00000207549.3:n.1447-45T>G
ENST00000207549.8:c.1447-45T>G ENSP00000207549.3:n.1447-45T>G
ENST00000412096.6:c.1447-45T>G ENSP00000388093.1:n.1447-45T>G
ENST00000586147.1:c.175-45T>G ENSP00000466543.1:n.175-45T>G
ENST00000587105.1:c.566-45T>G
ENST00000591563.5:n.1717-45T>G
NM_199242.2:c.1447-45T>G , LRG_122t1:c.1447-45T>G NP_954712.1:n.1447-45T>G
XM_011524504.1:c.1447-45T>G XP_011522806.1:n.1447-45T>G
XM_011524505.1:c.1447-45T>G XP_011522807.1:n.1447-45T>G
XM_011524506.1:c.1444-45T>G XP_011522808.1:n.1444-45T>G
XM_011524507.1:c.838-45T>G XP_011522809.1:n.838-45T>G
XM_011524508.1:c.838-45T>G XP_011522810.1:n.838-45T>G
XM_011524504.2:c.1447-45T>G XP_011522806.1:n.1447-45T>G
XM_011524507.2:c.838-45T>G XP_011522809.1:n.838-45T>G
XM_024450640.1:c.838-45T>G XP_024306408.1:n.838-45T>G
NM_199242.3:c.1447-45T>G MANE Select NP_954712.1:n.1447-45T>G