Canonical Allele Identifier: CA2275706895

Gene: UNC13D

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75836236G= , CM000679.2:g.75836236G=	GRCh38
NC_000017.10:g.73832317G= , CM000679.1:g.73832317G=	GRCh37
NC_000017.9:g.71343912G=	NCBI36
NG_007266.1:g.13482C= , LRG_122:g.13482C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699510.1:c.345C=	ENSP00000514405.1:p.Phe115=
ENST00000699511.1:c.587C=
ENST00000207549.9:c.1410C= MANE Select	ENSP00000207549.3:p.Phe470=
ENST00000207549.8:c.1410C=	ENSP00000207549.3:p.Phe470=
ENST00000412096.6:c.1410C=	ENSP00000388093.1:p.Phe470=
ENST00000586147.1:c.138C=	ENSP00000466543.1:p.Phe46=
ENST00000587105.1:c.529C=
ENST00000591563.5:n.1680C=
NM_199242.2:c.1410C= , LRG_122t1:c.1410C=	NP_954712.1:p.Phe470=
XM_011524504.1:c.1410C=	XP_011522806.1:p.Phe470=
XM_011524505.1:c.1410C=	XP_011522807.1:p.Phe470=
XM_011524506.1:c.1407C=	XP_011522808.1:p.Phe469=
XM_011524507.1:c.801C=	XP_011522809.1:p.Phe267=
XM_011524508.1:c.801C=	XP_011522810.1:p.Phe267=
XM_011524504.2:c.1410C=	XP_011522806.1:p.Phe470=
XM_011524507.2:c.801C=	XP_011522809.1:p.Phe267=
XM_024450640.1:c.801C=	XP_024306408.1:p.Phe267=
NM_199242.3:c.1410C= MANE Select	NP_954712.1:p.Phe470=