Canonical Allele Identifier: CA501844991

Gene: UNC13D

Linked Data

• MyVariant Identifiers: chr17:g.73836599G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75840518G>A , CM000679.2:g.75840518G>A	GRCh38
NC_000017.10:g.73836599G>A , CM000679.1:g.73836599G>A	GRCh37
NC_000017.9:g.71348194G>A	NCBI36
NG_007266.1:g.9200C>T , LRG_122:g.9200C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000585574.6:c.*164C>T	ENSP00000514389.1:n.*164C>T
ENST00000587504.6:c.685C>T	ENSP00000514388.1:p.Leu229=
ENST00000592386.6:c.724C>T	ENSP00000466826.2:p.Leu242=
ENST00000207549.9:c.742C>T MANE Select	ENSP00000207549.3:p.Leu248=
ENST00000207549.8:c.742C>T	ENSP00000207549.3:p.Leu248=
ENST00000412096.6:c.742C>T	ENSP00000388093.1:p.Leu248=
ENST00000586147.1:c.117+3703C>T	ENSP00000466543.1:n.117+3703C>T
ENST00000587504.5:n.707C>T
ENST00000590762.5:c.685C>T	ENSP00000467653.1:p.Leu229=
ENST00000591563.5:n.823C>T
ENST00000592386.5:c.721C>T	ENSP00000466826.1:p.Leu241=
NM_199242.2:c.742C>T , LRG_122t1:c.742C>T	NP_954712.1:p.Leu248=
XM_011524504.1:c.742C>T	XP_011522806.1:p.Leu248=
XM_011524505.1:c.742C>T	XP_011522807.1:p.Leu248=
XM_011524506.1:c.742C>T	XP_011522808.1:p.Leu248=
XM_011524507.1:c.133C>T	XP_011522809.1:p.Leu45=
XM_011524508.1:c.133C>T	XP_011522810.1:p.Leu45=
XM_011524504.2:c.742C>T	XP_011522806.1:p.Leu248=
XM_011524507.2:c.133C>T	XP_011522809.1:p.Leu45=
XM_024450640.1:c.133C>T	XP_024306408.1:p.Leu45=
NM_199242.3:c.742C>T MANE Select	NP_954712.1:p.Leu248=