Canonical Allele Identifier: CA401099218

Gene: UNC13D

Linked Data

• MyVariant Identifiers: chr17:g.73832430T>G (hg19) ; chr17:g.75836349T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75836349T>G , CM000679.2:g.75836349T>G	GRCh38
NC_000017.10:g.73832430T>G , CM000679.1:g.73832430T>G	GRCh37
NC_000017.9:g.71344025T>G	NCBI36
NG_007266.1:g.13369A>C , LRG_122:g.13369A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000699510.1:c.314A>C	ENSP00000514405.1:p.Glu105Ala
ENST00000699511.1:c.556A>C
ENST00000207549.9:c.1379A>C MANE Select	ENSP00000207549.3:p.Glu460Ala
ENST00000207549.8:c.1379A>C	ENSP00000207549.3:p.Glu460Ala
ENST00000412096.6:c.1379A>C	ENSP00000388093.1:p.Glu460Ala
ENST00000586147.1:c.118-93A>C	ENSP00000466543.1:n.118-93A>C
ENST00000587105.1:c.498A>C
ENST00000591563.5:n.1649A>C
NM_199242.2:c.1379A>C , LRG_122t1:c.1379A>C	NP_954712.1:p.Glu460Ala
XM_011524504.1:c.1379A>C	XP_011522806.1:p.Glu460Ala
XM_011524505.1:c.1379A>C	XP_011522807.1:p.Glu460Ala
XM_011524506.1:c.1376A>C	XP_011522808.1:p.Glu459Ala
XM_011524507.1:c.770A>C	XP_011522809.1:p.Glu257Ala
XM_011524508.1:c.770A>C	XP_011522810.1:p.Glu257Ala
XM_011524504.2:c.1379A>C	XP_011522806.1:p.Glu460Ala
XM_011524507.2:c.770A>C	XP_011522809.1:p.Glu257Ala
XM_024450640.1:c.770A>C	XP_024306408.1:p.Glu257Ala
NM_199242.3:c.1379A>C MANE Select	NP_954712.1:p.Glu460Ala