Canonical Allele Identifier: CA627596588
Community Standard Title: NM_199242.3(UNC13D):c.389-13C>T
Gene: UNC13D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75842626G>A , CM000679.2:g.75842626G>A GRCh38
NC_000017.10:g.73838707G>A , CM000679.1:g.73838707G>A GRCh37
NC_000017.9:g.71350302G>A NCBI36
NG_007266.1:g.7092C>T , LRG_122:g.7092C>T

Transcript Alleles

HGVS Amino-acid Change
NM_199242.3:c.389-13C>T MANE Select NP_954712.1:n.389-13C>T
ENST00000207549.9:c.389-13C>T MANE Select ENSP00000207549.3:n.389-13C>T
NM_199242.2:c.389-13C>T , LRG_122t1:c.389-13C>T NP_954712.1:n.389-13C>T
ENST00000207549.8:c.389-13C>T ENSP00000207549.3:n.389-13C>T
ENST00000412096.6:c.389-13C>T ENSP00000388093.1:n.389-13C>T
ENST00000585574.5:n.365-13C>T
ENST00000585574.6:c.332-13C>T ENSP00000514389.1:n.332-13C>T
ENST00000586108.1:c.389-13C>T ENSP00000464749.1:n.389-13C>T
ENST00000586147.1:c.117+1595C>T ENSP00000466543.1:n.117+1595C>T
ENST00000587504.5:n.354-13C>T
ENST00000587504.6:c.332-13C>T ENSP00000514388.1:n.332-13C>T
ENST00000590762.5:c.332-13C>T ENSP00000467653.1:n.332-13C>T
ENST00000591563.5:n.470-13C>T
ENST00000592386.5:c.368-13C>T ENSP00000466826.1:n.368-13C>T
ENST00000592386.6:c.371-13C>T ENSP00000466826.2:n.371-13C>T
ENST00000699512.1:c.224-13C>T ENSP00000514407.1:n.224-13C>T
ENST00000699513.1:c.389-13C>T ENSP00000514408.1:n.389-13C>T
XM_011524504.1:c.389-13C>T XP_011522806.1:n.389-13C>T
XM_011524504.2:c.389-13C>T XP_011522806.1:n.389-13C>T
XM_011524505.1:c.389-13C>T XP_011522807.1:n.389-13C>T
XM_011524506.1:c.389-13C>T XP_011522808.1:n.389-13C>T
XM_011524507.1:c.-221-13C>T XP_011522809.1:n.-221-13C>T
XM_011524507.2:c.-221-13C>T XP_011522809.1:n.-221-13C>T