Canonical Allele Identifier: CA401101820

Gene: UNC13D

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75836845T>G , CM000679.2:g.75836845T>G	GRCh38
NC_000017.10:g.73832926T>G , CM000679.1:g.73832926T>G	GRCh37
NC_000017.9:g.71344521T>G	NCBI36
NG_007266.1:g.12873A>C , LRG_122:g.12873A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_199242.3:c.1129A>C MANE Select	NP_954712.1:p.Ser377Arg
ENST00000207549.9:c.1129A>C MANE Select	ENSP00000207549.3:p.Ser377Arg
NM_199242.2:c.1129A>C , LRG_122t1:c.1129A>C	NP_954712.1:p.Ser377Arg
ENST00000207549.8:c.1129A>C	ENSP00000207549.3:p.Ser377Arg
ENST00000412096.6:c.1129A>C	ENSP00000388093.1:p.Ser377Arg
ENST00000586147.1:c.118-589A>C	ENSP00000466543.1:n.118-589A>C
ENST00000587105.1:c.351A>C
ENST00000587504.6:c.*147A>C	ENSP00000514388.1:n.*147A>C
ENST00000591563.5:n.1399A>C
ENST00000699510.1:c.64A>C	ENSP00000514405.1:p.Ser22Arg
ENST00000699511.1:c.309A>C
XM_011524504.1:c.1129A>C	XP_011522806.1:p.Ser377Arg
XM_011524504.2:c.1129A>C	XP_011522806.1:p.Ser377Arg
XM_011524505.1:c.1129A>C	XP_011522807.1:p.Ser377Arg
XM_011524506.1:c.1129A>C	XP_011522808.1:p.Ser377Arg
XM_011524507.1:c.520A>C	XP_011522809.1:p.Ser174Arg
XM_011524507.2:c.520A>C	XP_011522809.1:p.Ser174Arg
XM_011524508.1:c.520A>C	XP_011522810.1:p.Ser174Arg
XM_024450640.1:c.520A>C	XP_024306408.1:p.Ser174Arg