Canonical Allele Identifier: CA401109968

Gene: UNC13D

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75840509G>A , CM000679.2:g.75840509G>A	GRCh38
NC_000017.10:g.73836590G>A , CM000679.1:g.73836590G>A	GRCh37
NC_000017.9:g.71348185G>A	NCBI36
NG_007266.1:g.9209C>T , LRG_122:g.9209C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_199242.3:c.751C>T MANE Select	NP_954712.1:p.Gln251Ter
ENST00000207549.9:c.751C>T MANE Select	ENSP00000207549.3:p.Gln251Ter
NM_199242.2:c.751C>T , LRG_122t1:c.751C>T	NP_954712.1:p.Gln251Ter
ENST00000207549.8:c.751C>T	ENSP00000207549.3:p.Gln251Ter
ENST00000412096.6:c.751C>T	ENSP00000388093.1:p.Gln251Ter
ENST00000585574.6:c.*173C>T	ENSP00000514389.1:n.*173C>T
ENST00000586147.1:c.117+3712C>T	ENSP00000466543.1:n.117+3712C>T
ENST00000587504.5:n.716C>T
ENST00000587504.6:c.694C>T	ENSP00000514388.1:p.Gln232Ter
ENST00000590762.5:c.694C>T	ENSP00000467653.1:p.Gln232Ter
ENST00000591563.5:n.832C>T
ENST00000592386.5:c.730C>T	ENSP00000466826.1:p.Gln244Ter
ENST00000592386.6:c.733C>T	ENSP00000466826.2:p.Gln245Ter
XM_011524504.1:c.751C>T	XP_011522806.1:p.Gln251Ter
XM_011524504.2:c.751C>T	XP_011522806.1:p.Gln251Ter
XM_011524505.1:c.751C>T	XP_011522807.1:p.Gln251Ter
XM_011524506.1:c.751C>T	XP_011522808.1:p.Gln251Ter
XM_011524507.1:c.142C>T	XP_011522809.1:p.Gln48Ter
XM_011524507.2:c.142C>T	XP_011522809.1:p.Gln48Ter
XM_011524508.1:c.142C>T	XP_011522810.1:p.Gln48Ter
XM_024450640.1:c.142C>T	XP_024306408.1:p.Gln48Ter