Canonical Allele Identifier: CA401117800
Community Standard Title: NM_199242.3(UNC13D):c.154-1G>T
Gene: UNC13D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75843267C>A , CM000679.2:g.75843267C>A GRCh38
NC_000017.10:g.73839348C>A , CM000679.1:g.73839348C>A GRCh37
NC_000017.9:g.71350943C>A NCBI36
NG_007266.1:g.6451G>T , LRG_122:g.6451G>T

Transcript Alleles

HGVS Amino-acid Change
NM_199242.3:c.154-1G>T MANE Select NP_954712.1:n.154-1G>T
ENST00000207549.9:c.154-1G>T MANE Select ENSP00000207549.3:n.154-1G>T
NM_199242.2:c.154-1G>T , LRG_122t1:c.154-1G>T NP_954712.1:n.154-1G>T
ENST00000207549.8:c.154-1G>T ENSP00000207549.3:n.154-1G>T
ENST00000412096.6:c.154-1G>T ENSP00000388093.1:n.154-1G>T
ENST00000585574.5:n.130-1G>T
ENST00000585574.6:c.97-1G>T ENSP00000514389.1:n.97-1G>T
ENST00000586108.1:c.154-1G>T ENSP00000464749.1:n.154-1G>T
ENST00000586147.1:c.117+954G>T ENSP00000466543.1:n.117+954G>T
ENST00000587504.5:n.119-1G>T
ENST00000587504.6:c.97-1G>T ENSP00000514388.1:n.97-1G>T
ENST00000588774.1:n.831-1G>T
ENST00000588774.2:n.941-1G>T
ENST00000590762.5:c.97-1G>T ENSP00000467653.1:n.97-1G>T
ENST00000591563.5:n.235-1G>T
ENST00000592386.5:c.151-19G>T ENSP00000466826.1:n.151-19G>T
ENST00000592386.6:c.154-19G>T ENSP00000466826.2:n.154-19G>T
ENST00000699512.1:c.49-1G>T ENSP00000514407.1:n.49-1G>T
ENST00000699513.1:c.154-1G>T ENSP00000514408.1:n.154-1G>T
XM_011524504.1:c.154-1G>T XP_011522806.1:n.154-1G>T
XM_011524504.2:c.154-1G>T XP_011522806.1:n.154-1G>T
XM_011524505.1:c.154-1G>T XP_011522807.1:n.154-1G>T
XM_011524506.1:c.154-1G>T XP_011522808.1:n.154-1G>T
XM_011524507.1:c.-456-1G>T XP_011522809.1:n.-456-1G>T
XM_011524507.2:c.-456-1G>T XP_011522809.1:n.-456-1G>T