Canonical Allele Identifier: CA502049719

Gene: UNC13D

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75834364G>T , CM000679.2:g.75834364G>T	GRCh38
NC_000017.10:g.73830445G>T , CM000679.1:g.73830445G>T	GRCh37
NC_000017.9:g.71342040G>T	NCBI36
NG_007266.1:g.15354C>A , LRG_122:g.15354C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_199242.3:c.2259C>A MANE Select	NP_954712.1:p.Gly753=
ENST00000207549.9:c.2259C>A MANE Select	ENSP00000207549.3:p.Gly753=
NM_199242.2:c.2259C>A , LRG_122t1:c.2259C>A	NP_954712.1:p.Gly753=
ENST00000207549.8:c.2259C>A	ENSP00000207549.3:p.Gly753=
ENST00000412096.6:c.2259C>A	ENSP00000388093.1:p.Gly753=
ENST00000591563.5:n.2529C>A
ENST00000591616.1:n.620C>A
ENST00000699510.1:c.1125C>A	ENSP00000514405.1:p.Gly375=
XM_011524504.1:c.2259C>A	XP_011522806.1:p.Gly753=
XM_011524504.2:c.2259C>A	XP_011522806.1:p.Gly753=
XM_011524505.1:c.2259C>A	XP_011522807.1:p.Gly753=
XM_011524506.1:c.2256C>A	XP_011522808.1:p.Gly752=
XM_011524507.1:c.1650C>A	XP_011522809.1:p.Gly550=
XM_011524507.2:c.1650C>A	XP_011522809.1:p.Gly550=
XM_011524508.1:c.1650C>A	XP_011522810.1:p.Gly550=
XM_024450640.1:c.1650C>A	XP_024306408.1:p.Gly550=