Canonical Allele Identifier: CA401107908
Community Standard Title: NM_199242.3(UNC13D):c.883C>T (p.Gln295Ter)
Gene: UNC13D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75840086G>A , CM000679.2:g.75840086G>A GRCh38
NC_000017.10:g.73836167G>A , CM000679.1:g.73836167G>A GRCh37
NC_000017.9:g.71347762G>A NCBI36
NG_007266.1:g.9632C>T , LRG_122:g.9632C>T

Transcript Alleles

HGVS Amino-acid Change
NM_199242.3:c.883C>T MANE Select NP_954712.1:p.Gln295Ter
ENST00000207549.9:c.883C>T MANE Select ENSP00000207549.3:p.Gln295Ter
NM_199242.2:c.883C>T , LRG_122t1:c.883C>T NP_954712.1:p.Gln295Ter
ENST00000207549.8:c.883C>T ENSP00000207549.3:p.Gln295Ter
ENST00000412096.6:c.883C>T ENSP00000388093.1:p.Gln295Ter
ENST00000586147.1:c.118-3830C>T ENSP00000466543.1:n.118-3830C>T
ENST00000587105.1:c.105C>T
ENST00000587504.5:n.886C>T
ENST00000587504.6:c.864C>T ENSP00000514388.1:p.Arg288=
ENST00000591563.5:n.1078C>T
ENST00000592386.5:c.862C>T ENSP00000466826.1:p.Gln288Ter
ENST00000592386.6:c.865C>T ENSP00000466826.2:p.Gln289Ter
ENST00000699511.1:c.63C>T
XM_011524504.1:c.883C>T XP_011522806.1:p.Gln295Ter
XM_011524504.2:c.883C>T XP_011522806.1:p.Gln295Ter
XM_011524505.1:c.883C>T XP_011522807.1:p.Gln295Ter
XM_011524506.1:c.883C>T XP_011522808.1:p.Gln295Ter
XM_011524507.1:c.274C>T XP_011522809.1:p.Gln92Ter
XM_011524507.2:c.274C>T XP_011522809.1:p.Gln92Ter
XM_011524508.1:c.274C>T XP_011522810.1:p.Gln92Ter
XM_024450640.1:c.274C>T XP_024306408.1:p.Gln92Ter