Canonical Allele Identifier: CA8772752

Gene: UNC13D

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75835022C>T , CM000679.2:g.75835022C>T	GRCh38
NC_000017.10:g.73831103C>T , CM000679.1:g.73831103C>T	GRCh37
NC_000017.9:g.71342698C>T	NCBI36
NG_007266.1:g.14696G>A , LRG_122:g.14696G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_199242.3:c.1890G>A MANE Select	NP_954712.1:p.Ala630=
ENST00000207549.9:c.1890G>A MANE Select	ENSP00000207549.3:p.Ala630=
NM_199242.2:c.1890G>A , LRG_122t1:c.1890G>A	NP_954712.1:p.Ala630=
ENST00000207549.8:c.1890G>A	ENSP00000207549.3:p.Ala630=
ENST00000412096.6:c.1890G>A	ENSP00000388093.1:p.Ala630=
ENST00000591563.5:n.2160G>A
ENST00000591616.1:n.251G>A
ENST00000699510.1:c.784-28G>A	ENSP00000514405.1:n.784-28G>A
XM_011524504.1:c.1890G>A	XP_011522806.1:p.Ala630=
XM_011524504.2:c.1890G>A	XP_011522806.1:p.Ala630=
XM_011524505.1:c.1890G>A	XP_011522807.1:p.Ala630=
XM_011524506.1:c.1887G>A	XP_011522808.1:p.Ala629=
XM_011524507.1:c.1281G>A	XP_011522809.1:p.Ala427=
XM_011524507.2:c.1281G>A	XP_011522809.1:p.Ala427=
XM_011524508.1:c.1281G>A	XP_011522810.1:p.Ala427=
XM_024450640.1:c.1281G>A	XP_024306408.1:p.Ala427=