Canonical Allele Identifier: CA8773072

Gene: UNC13D

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75836642T>G , CM000679.2:g.75836642T>G	GRCh38
NC_000017.10:g.73832723T>G , CM000679.1:g.73832723T>G	GRCh37
NC_000017.9:g.71344318T>G	NCBI36
NG_007266.1:g.13076A>C , LRG_122:g.13076A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_199242.3:c.1228A>C MANE Select	NP_954712.1:p.Ile410Leu
ENST00000207549.9:c.1228A>C MANE Select	ENSP00000207549.3:p.Ile410Leu
NM_199242.2:c.1228A>C , LRG_122t1:c.1228A>C	NP_954712.1:p.Ile410Leu
ENST00000207549.8:c.1228A>C	ENSP00000207549.3:p.Ile410Leu
ENST00000412096.6:c.1228A>C	ENSP00000388093.1:p.Ile410Leu
ENST00000586147.1:c.118-386A>C	ENSP00000466543.1:n.118-386A>C
ENST00000587105.1:c.396-49A>C
ENST00000591563.5:n.1498A>C
ENST00000699510.1:c.163A>C	ENSP00000514405.1:p.Ile55Leu
ENST00000699511.1:c.405A>C
XM_011524504.1:c.1228A>C	XP_011522806.1:p.Ile410Leu
XM_011524504.2:c.1228A>C	XP_011522806.1:p.Ile410Leu
XM_011524505.1:c.1228A>C	XP_011522807.1:p.Ile410Leu
XM_011524506.1:c.1225A>C	XP_011522808.1:p.Ile409Leu
XM_011524507.1:c.619A>C	XP_011522809.1:p.Ile207Leu
XM_011524507.2:c.619A>C	XP_011522809.1:p.Ile207Leu
XM_011524508.1:c.619A>C	XP_011522810.1:p.Ile207Leu
XM_024450640.1:c.619A>C	XP_024306408.1:p.Ile207Leu