Canonical Allele Identifier: CA401107209
Community Standard Title: NM_199242.3(UNC13D):c.943C>T (p.Gln315Ter)
Gene: UNC13D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75840026G>A , CM000679.2:g.75840026G>A GRCh38
NC_000017.10:g.73836107G>A , CM000679.1:g.73836107G>A GRCh37
NC_000017.9:g.71347702G>A NCBI36
NG_007266.1:g.9692C>T , LRG_122:g.9692C>T

Transcript Alleles

HGVS Amino-acid Change
NM_199242.3:c.943C>T MANE Select NP_954712.1:p.Gln315Ter
ENST00000207549.9:c.943C>T MANE Select ENSP00000207549.3:p.Gln315Ter
NM_199242.2:c.943C>T , LRG_122t1:c.943C>T NP_954712.1:p.Gln315Ter
ENST00000207549.8:c.943C>T ENSP00000207549.3:p.Gln315Ter
ENST00000412096.6:c.943C>T ENSP00000388093.1:p.Gln315Ter
ENST00000586147.1:c.118-3770C>T ENSP00000466543.1:n.118-3770C>T
ENST00000587105.1:c.165C>T
ENST00000587504.5:n.946C>T
ENST00000587504.6:c.924C>T ENSP00000514388.1:p.Pro308=
ENST00000591563.5:n.1138C>T
ENST00000592386.5:c.922C>T ENSP00000466826.1:p.Gln308Ter
ENST00000592386.6:c.925C>T ENSP00000466826.2:p.Gln309Ter
ENST00000699511.1:c.123C>T
XM_011524504.1:c.943C>T XP_011522806.1:p.Gln315Ter
XM_011524504.2:c.943C>T XP_011522806.1:p.Gln315Ter
XM_011524505.1:c.943C>T XP_011522807.1:p.Gln315Ter
XM_011524506.1:c.943C>T XP_011522808.1:p.Gln315Ter
XM_011524507.1:c.334C>T XP_011522809.1:p.Gln112Ter
XM_011524507.2:c.334C>T XP_011522809.1:p.Gln112Ter
XM_011524508.1:c.334C>T XP_011522810.1:p.Gln112Ter
XM_024450640.1:c.334C>T XP_024306408.1:p.Gln112Ter