Canonical Allele Identifier: CA8772284

Gene: UNC13D

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75828871G>A , CM000679.2:g.75828871G>A	GRCh38
NC_000017.10:g.73824952G>A , CM000679.1:g.73824952G>A	GRCh37
NC_000017.9:g.71336547G>A	NCBI36
NG_007266.1:g.20847C>T , LRG_122:g.20847C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_199242.3:c.3067C>T MANE Select	NP_954712.1:p.Arg1023Cys
ENST00000207549.9:c.3067C>T MANE Select	ENSP00000207549.3:p.Arg1023Cys
NM_199242.2:c.3067C>T , LRG_122t1:c.3067C>T	NP_954712.1:p.Arg1023Cys
ENST00000207549.8:c.3067C>T	ENSP00000207549.3:p.Arg1023Cys
ENST00000412096.6:c.3067C>T	ENSP00000388093.1:p.Arg1023Cys
ENST00000586519.1:c.189C>T	ENSP00000466149.1:p.Cys63=
ENST00000589670.5:c.233C>T
ENST00000699510.1:c.1933C>T	ENSP00000514405.1:p.Arg645Cys
XM_011524504.1:c.3136C>T	XP_011522806.1:p.Arg1046Cys
XM_011524504.2:c.3136C>T	XP_011522806.1:p.Arg1046Cys
XM_011524505.1:c.3136C>T	XP_011522807.1:p.Arg1046Cys
XM_011524506.1:c.3133C>T	XP_011522808.1:p.Arg1045Cys
XM_011524507.1:c.2527C>T	XP_011522809.1:p.Arg843Cys
XM_011524507.2:c.2527C>T	XP_011522809.1:p.Arg843Cys
XM_011524508.1:c.2527C>T	XP_011522810.1:p.Arg843Cys
XM_024450640.1:c.2527C>T	XP_024306408.1:p.Arg843Cys