Canonical Allele Identifier: CA2275710741
Community Standard Title: NM_199242.3(UNC13D):c.118-308C=
Gene: UNC13D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75843827G= , CM000679.2:g.75843827G= GRCh38
NC_000017.10:g.73839908G= , CM000679.1:g.73839908G= GRCh37
NC_000017.9:g.71351503G= NCBI36
NG_007266.1:g.5891C= , LRG_122:g.5891C=

Transcript Alleles

HGVS Amino-acid Change
NM_199242.3:c.118-308C= MANE Select NP_954712.1:n.118-308C=
ENST00000207549.9:c.118-308C= MANE Select ENSP00000207549.3:n.118-308C=
NM_199242.2:c.118-308C= , LRG_122t1:c.118-308C= NP_954712.1:n.118-308C=
ENST00000207549.8:c.118-308C= ENSP00000207549.3:n.118-308C=
ENST00000412096.6:c.118-308C= ENSP00000388093.1:n.118-308C=
ENST00000586108.1:c.118-308C= ENSP00000464749.1:n.118-308C=
ENST00000586147.1:c.117+394C= ENSP00000466543.1:n.117+394C=
ENST00000588774.1:n.487C=
ENST00000588774.2:n.597C=
ENST00000591563.5:n.199-308C=
ENST00000592386.5:c.115-308C= ENSP00000466826.1:n.115-308C=
ENST00000592386.6:c.118-308C= ENSP00000466826.2:n.118-308C=
ENST00000699512.1:c.13-308C= ENSP00000514407.1:n.13-308C=
ENST00000699513.1:c.118-308C= ENSP00000514408.1:n.118-308C=
XM_011524504.1:c.118-308C= XP_011522806.1:n.118-308C=
XM_011524504.2:c.118-308C= XP_011522806.1:n.118-308C=
XM_011524505.1:c.118-308C= XP_011522807.1:n.118-308C=
XM_011524506.1:c.118-308C= XP_011522808.1:n.118-308C=
XM_011524507.1:c.-800C= XP_011522809.1:n.-800C=
XM_011524507.2:c.-800C= XP_011522809.1:n.-800C=