Canonical Allele Identifier: CA8772507

Gene: UNC13D

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75831361C>T , CM000679.2:g.75831361C>T	GRCh38
NC_000017.10:g.73827442C>T , CM000679.1:g.73827442C>T	GRCh37
NC_000017.9:g.71339037C>T	NCBI36
NG_007266.1:g.18357G>A , LRG_122:g.18357G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_199242.3:c.2448-13G>A MANE Select	NP_954712.1:n.2448-13G>A
ENST00000207549.9:c.2448-13G>A MANE Select	ENSP00000207549.3:n.2448-13G>A
NM_199242.2:c.2448-13G>A , LRG_122t1:c.2448-13G>A	NP_954712.1:n.2448-13G>A
ENST00000207549.8:c.2448-13G>A	ENSP00000207549.3:n.2448-13G>A
ENST00000412096.6:c.2448-13G>A	ENSP00000388093.1:n.2448-13G>A
ENST00000586930.1:n.158-13G>A
ENST00000591563.5:n.4322G>A
ENST00000699510.1:c.1314-13G>A	ENSP00000514405.1:n.1314-13G>A
XM_011524504.1:c.2504G>A	XP_011522806.1:p.Arg835Gln
XM_011524504.2:c.2504G>A	XP_011522806.1:p.Arg835Gln
XM_011524505.1:c.2504G>A	XP_011522807.1:p.Arg835Gln
XM_011524506.1:c.2501G>A	XP_011522808.1:p.Arg834Gln
XM_011524507.1:c.1895G>A	XP_011522809.1:p.Arg632Gln
XM_011524507.2:c.1895G>A	XP_011522809.1:p.Arg632Gln
XM_011524508.1:c.1895G>A	XP_011522810.1:p.Arg632Gln
XM_024450640.1:c.1895G>A	XP_024306408.1:p.Arg632Gln