Canonical Allele Identifier: CA8773369

Gene: UNC13D

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75840805G>A , CM000679.2:g.75840805G>A	GRCh38
NC_000017.10:g.73836886G>A , CM000679.1:g.73836886G>A	GRCh37
NC_000017.9:g.71348481G>A	NCBI36
NG_007266.1:g.8913C>T , LRG_122:g.8913C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_199242.3:c.640C>T MANE Select	NP_954712.1:p.Arg214Ter
ENST00000207549.9:c.640C>T MANE Select	ENSP00000207549.3:p.Arg214Ter
NM_199242.2:c.640C>T , LRG_122t1:c.640C>T	NP_954712.1:p.Arg214Ter
ENST00000207549.8:c.640C>T	ENSP00000207549.3:p.Arg214Ter
ENST00000412096.6:c.640C>T	ENSP00000388093.1:p.Arg214Ter
ENST00000585574.5:n.647C>T
ENST00000585574.6:c.*62C>T	ENSP00000514389.1:n.*62C>T
ENST00000586147.1:c.117+3416C>T	ENSP00000466543.1:n.117+3416C>T
ENST00000587495.1:n.226C>T
ENST00000587495.2:n.226C>T
ENST00000587504.5:n.605C>T
ENST00000587504.6:c.583C>T	ENSP00000514388.1:p.Arg195Ter
ENST00000590762.5:c.583C>T	ENSP00000467653.1:p.Arg195Ter
ENST00000591563.5:n.721C>T
ENST00000592386.5:c.619C>T	ENSP00000466826.1:p.Arg207Ter
ENST00000592386.6:c.622C>T	ENSP00000466826.2:p.Arg208Ter
XM_011524504.1:c.640C>T	XP_011522806.1:p.Arg214Ter
XM_011524504.2:c.640C>T	XP_011522806.1:p.Arg214Ter
XM_011524505.1:c.640C>T	XP_011522807.1:p.Arg214Ter
XM_011524506.1:c.640C>T	XP_011522808.1:p.Arg214Ter
XM_011524507.1:c.31C>T	XP_011522809.1:p.Arg11Ter
XM_011524507.2:c.31C>T	XP_011522809.1:p.Arg11Ter
XM_011524508.1:c.31C>T	XP_011522810.1:p.Arg11Ter
XM_024450640.1:c.31C>T	XP_024306408.1:p.Arg11Ter