Canonical Allele Identifier: CA401099224

Gene: UNC13D

Linked Data

• MyVariant Identifiers: chr17:g.73832431C>A (hg19) ; chr17:g.75836350C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75836350C>A , CM000679.2:g.75836350C>A	GRCh38
NC_000017.10:g.73832431C>A , CM000679.1:g.73832431C>A	GRCh37
NC_000017.9:g.71344026C>A	NCBI36
NG_007266.1:g.13368G>T , LRG_122:g.13368G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000699510.1:c.313G>T	ENSP00000514405.1:p.Glu105Ter
ENST00000699511.1:c.555G>T
ENST00000207549.9:c.1378G>T MANE Select	ENSP00000207549.3:p.Glu460Ter
ENST00000207549.8:c.1378G>T	ENSP00000207549.3:p.Glu460Ter
ENST00000412096.6:c.1378G>T	ENSP00000388093.1:p.Glu460Ter
ENST00000586147.1:c.118-94G>T	ENSP00000466543.1:n.118-94G>T
ENST00000587105.1:c.497G>T
ENST00000591563.5:n.1648G>T
NM_199242.2:c.1378G>T , LRG_122t1:c.1378G>T	NP_954712.1:p.Glu460Ter
XM_011524504.1:c.1378G>T	XP_011522806.1:p.Glu460Ter
XM_011524505.1:c.1378G>T	XP_011522807.1:p.Glu460Ter
XM_011524506.1:c.1375G>T	XP_011522808.1:p.Glu459Ter
XM_011524507.1:c.769G>T	XP_011522809.1:p.Glu257Ter
XM_011524508.1:c.769G>T	XP_011522810.1:p.Glu257Ter
XM_011524504.2:c.1378G>T	XP_011522806.1:p.Glu460Ter
XM_011524507.2:c.769G>T	XP_011522809.1:p.Glu257Ter
XM_024450640.1:c.769G>T	XP_024306408.1:p.Glu257Ter
NM_199242.3:c.1378G>T MANE Select	NP_954712.1:p.Glu460Ter