Canonical Allele Identifier: CA8773253

Gene: UNC13D

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75840213T>G , CM000679.2:g.75840213T>G	GRCh38
NC_000017.10:g.73836294T>G , CM000679.1:g.73836294T>G	GRCh37
NC_000017.9:g.71347889T>G	NCBI36
NG_007266.1:g.9505A>C , LRG_122:g.9505A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_199242.3:c.858+12A>C MANE Select	NP_954712.1:n.858+12A>C
ENST00000207549.9:c.858+12A>C MANE Select	ENSP00000207549.3:n.858+12A>C
NM_199242.2:c.858+12A>C , LRG_122t1:c.858+12A>C	NP_954712.1:n.858+12A>C
ENST00000207549.8:c.858+12A>C	ENSP00000207549.3:n.858+12A>C
ENST00000412096.6:c.858+12A>C	ENSP00000388093.1:n.858+12A>C
ENST00000586147.1:c.118-3957A>C	ENSP00000466543.1:n.118-3957A>C
ENST00000587105.1:c.80+12A>C
ENST00000587504.5:n.861+12A>C
ENST00000587504.6:c.839+12A>C	ENSP00000514388.1:n.839+12A>C
ENST00000591563.5:n.951A>C
ENST00000592386.5:c.837+12A>C	ENSP00000466826.1:n.837+12A>C
ENST00000592386.6:c.840+12A>C	ENSP00000466826.2:n.840+12A>C
ENST00000699511.1:c.38+12A>C
XM_011524504.1:c.858+12A>C	XP_011522806.1:n.858+12A>C
XM_011524504.2:c.858+12A>C	XP_011522806.1:n.858+12A>C
XM_011524505.1:c.858+12A>C	XP_011522807.1:n.858+12A>C
XM_011524506.1:c.858+12A>C	XP_011522808.1:n.858+12A>C
XM_011524507.1:c.249+12A>C	XP_011522809.1:n.249+12A>C
XM_011524507.2:c.249+12A>C	XP_011522809.1:n.249+12A>C
XM_011524508.1:c.249+12A>C	XP_011522810.1:n.249+12A>C
XM_024450640.1:c.249+12A>C	XP_024306408.1:n.249+12A>C