Canonical Allele Identifier: CA401120370

Gene: UNC13D

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75844289G>A , CM000679.2:g.75844289G>A	GRCh38
NC_000017.10:g.73840370G>A , CM000679.1:g.73840370G>A	GRCh37
NC_000017.9:g.71351965G>A	NCBI36
NG_007266.1:g.5429C>T , LRG_122:g.5429C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_199242.3:c.49C>T MANE Select	NP_954712.1:p.Gln17Ter
ENST00000207549.9:c.49C>T MANE Select	ENSP00000207549.3:p.Gln17Ter
NM_199242.2:c.49C>T , LRG_122t1:c.49C>T	NP_954712.1:p.Gln17Ter
ENST00000207549.8:c.49C>T	ENSP00000207549.3:p.Gln17Ter
ENST00000412096.6:c.49C>T	ENSP00000388093.1:p.Gln17Ter
ENST00000586108.1:c.49C>T	ENSP00000464749.1:p.Gln17Ter
ENST00000586147.1:c.49C>T	ENSP00000466543.1:p.Gln17Ter
ENST00000588774.1:n.25C>T
ENST00000588774.2:n.135C>T
ENST00000591563.5:n.130C>T
ENST00000592386.5:c.46C>T	ENSP00000466826.1:p.Gln16Ter
ENST00000592386.6:c.49C>T	ENSP00000466826.2:p.Gln17Ter
ENST00000699512.1:c.-57C>T	ENSP00000514407.1:n.-57C>T
ENST00000699513.1:c.49C>T	ENSP00000514408.1:p.Gln17Ter
XM_011524504.1:c.49C>T	XP_011522806.1:p.Gln17Ter
XM_011524504.2:c.49C>T	XP_011522806.1:p.Gln17Ter
XM_011524505.1:c.49C>T	XP_011522807.1:p.Gln17Ter
XM_011524506.1:c.49C>T	XP_011522808.1:p.Gln17Ter
XM_011524507.1:c.-990C>T	XP_011522809.1:n.-990C>T
XM_011524507.2:c.-990C>T	XP_011522809.1:n.-990C>T