Canonical Allele Identifier: CA10640594

Gene: UNC13D

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75843264C>A , CM000679.2:g.75843264C>A	GRCh38
NC_000017.10:g.73839345C>A , CM000679.1:g.73839345C>A	GRCh37
NC_000017.9:g.71350940C>A	NCBI36
NG_007266.1:g.6454G>T , LRG_122:g.6454G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_199242.3:c.156G>T MANE Select	NP_954712.1:p.Arg52=
ENST00000207549.9:c.156G>T MANE Select	ENSP00000207549.3:p.Arg52=
NM_199242.2:c.156G>T , LRG_122t1:c.156G>T	NP_954712.1:p.Arg52=
ENST00000207549.8:c.156G>T	ENSP00000207549.3:p.Arg52=
ENST00000412096.6:c.156G>T	ENSP00000388093.1:p.Arg52=
ENST00000585574.5:n.132G>T
ENST00000585574.6:c.99G>T	ENSP00000514389.1:p.Arg33=
ENST00000586108.1:c.156G>T	ENSP00000464749.1:p.Arg52=
ENST00000586147.1:c.117+957G>T	ENSP00000466543.1:n.117+957G>T
ENST00000587504.5:n.121G>T
ENST00000587504.6:c.99G>T	ENSP00000514388.1:p.Arg33=
ENST00000588774.1:n.833G>T
ENST00000588774.2:n.943G>T
ENST00000590762.5:c.99G>T	ENSP00000467653.1:p.Arg33=
ENST00000591563.5:n.237G>T
ENST00000592386.5:c.151-16G>T	ENSP00000466826.1:n.151-16G>T
ENST00000592386.6:c.154-16G>T	ENSP00000466826.2:n.154-16G>T
ENST00000699512.1:c.51G>T	ENSP00000514407.1:p.Arg17=
ENST00000699513.1:c.156G>T	ENSP00000514408.1:p.Arg52=
XM_011524504.1:c.156G>T	XP_011522806.1:p.Arg52=
XM_011524504.2:c.156G>T	XP_011522806.1:p.Arg52=
XM_011524505.1:c.156G>T	XP_011522807.1:p.Arg52=
XM_011524506.1:c.156G>T	XP_011522808.1:p.Arg52=
XM_011524507.1:c.-454G>T	XP_011522809.1:n.-454G>T
XM_011524507.2:c.-454G>T	XP_011522809.1:n.-454G>T