Canonical Allele Identifier: CA8772316

Gene: UNC13D

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75828955C>G , CM000679.2:g.75828955C>G	GRCh38
NC_000017.10:g.73825036C>G , CM000679.1:g.73825036C>G	GRCh37
NC_000017.9:g.71336631C>G	NCBI36
NG_007266.1:g.20763G>C , LRG_122:g.20763G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_199242.3:c.2983G>C MANE Select	NP_954712.1:p.Ala995Pro
ENST00000207549.9:c.2983G>C MANE Select	ENSP00000207549.3:p.Ala995Pro
NM_199242.2:c.2983G>C , LRG_122t1:c.2983G>C	NP_954712.1:p.Ala995Pro
ENST00000207549.8:c.2983G>C	ENSP00000207549.3:p.Ala995Pro
ENST00000412096.6:c.2983G>C	ENSP00000388093.1:p.Ala995Pro
ENST00000586519.1:c.105G>C	ENSP00000466149.1:p.Arg35Ser
ENST00000589670.5:c.149G>C
ENST00000699510.1:c.1849G>C	ENSP00000514405.1:p.Ala617Pro
XM_011524504.1:c.3052G>C	XP_011522806.1:p.Ala1018Pro
XM_011524504.2:c.3052G>C	XP_011522806.1:p.Ala1018Pro
XM_011524505.1:c.3052G>C	XP_011522807.1:p.Ala1018Pro
XM_011524506.1:c.3049G>C	XP_011522808.1:p.Ala1017Pro
XM_011524507.1:c.2443G>C	XP_011522809.1:p.Ala815Pro
XM_011524507.2:c.2443G>C	XP_011522809.1:p.Ala815Pro
XM_011524508.1:c.2443G>C	XP_011522810.1:p.Ala815Pro
XM_024450640.1:c.2443G>C	XP_024306408.1:p.Ala815Pro