Canonical Allele Identifier: CA8772792

Gene: UNC13D

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75835437C>G , CM000679.2:g.75835437C>G	GRCh38
NC_000017.10:g.73831518C>G , CM000679.1:g.73831518C>G	GRCh37
NC_000017.9:g.71343113C>G	NCBI36
NG_007266.1:g.14281G>C , LRG_122:g.14281G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_199242.3:c.1820G>C MANE Select	NP_954712.1:p.Arg607Pro
ENST00000207549.9:c.1820G>C MANE Select	ENSP00000207549.3:p.Arg607Pro
NM_199242.2:c.1820G>C , LRG_122t1:c.1820G>C	NP_954712.1:p.Arg607Pro
ENST00000207549.8:c.1820G>C	ENSP00000207549.3:p.Arg607Pro
ENST00000412096.6:c.1820G>C	ENSP00000388093.1:p.Arg607Pro
ENST00000586147.1:c.548G>C	ENSP00000466543.1:p.Arg183Pro
ENST00000591563.5:n.2090G>C
ENST00000699510.1:c.755G>C	ENSP00000514405.1:p.Arg252Pro
XM_011524504.1:c.1820G>C	XP_011522806.1:p.Arg607Pro
XM_011524504.2:c.1820G>C	XP_011522806.1:p.Arg607Pro
XM_011524505.1:c.1820G>C	XP_011522807.1:p.Arg607Pro
XM_011524506.1:c.1817G>C	XP_011522808.1:p.Arg606Pro
XM_011524507.1:c.1211G>C	XP_011522809.1:p.Arg404Pro
XM_011524507.2:c.1211G>C	XP_011522809.1:p.Arg404Pro
XM_011524508.1:c.1211G>C	XP_011522810.1:p.Arg404Pro
XM_024450640.1:c.1211G>C	XP_024306408.1:p.Arg404Pro