Canonical Allele Identifier: CA401110072

Gene: UNC13D

Linked Data

• MyVariant Identifiers: chr17:g.73836598A>C (hg19) ; chr17:g.75840517A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75840517A>C , CM000679.2:g.75840517A>C	GRCh38
NC_000017.10:g.73836598A>C , CM000679.1:g.73836598A>C	GRCh37
NC_000017.9:g.71348193A>C	NCBI36
NG_007266.1:g.9201T>G , LRG_122:g.9201T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585574.6:c.*165T>G	ENSP00000514389.1:n.*165T>G
ENST00000587504.6:c.686T>G	ENSP00000514388.1:p.Leu229Arg
ENST00000592386.6:c.725T>G	ENSP00000466826.2:p.Leu242Arg
ENST00000207549.9:c.743T>G MANE Select	ENSP00000207549.3:p.Leu248Arg
ENST00000207549.8:c.743T>G	ENSP00000207549.3:p.Leu248Arg
ENST00000412096.6:c.743T>G	ENSP00000388093.1:p.Leu248Arg
ENST00000586147.1:c.117+3704T>G	ENSP00000466543.1:n.117+3704T>G
ENST00000587504.5:n.708T>G
ENST00000590762.5:c.686T>G	ENSP00000467653.1:p.Leu229Arg
ENST00000591563.5:n.824T>G
ENST00000592386.5:c.722T>G	ENSP00000466826.1:p.Leu241Arg
NM_199242.2:c.743T>G , LRG_122t1:c.743T>G	NP_954712.1:p.Leu248Arg
XM_011524504.1:c.743T>G	XP_011522806.1:p.Leu248Arg
XM_011524505.1:c.743T>G	XP_011522807.1:p.Leu248Arg
XM_011524506.1:c.743T>G	XP_011522808.1:p.Leu248Arg
XM_011524507.1:c.134T>G	XP_011522809.1:p.Leu45Arg
XM_011524508.1:c.134T>G	XP_011522810.1:p.Leu45Arg
XM_011524504.2:c.743T>G	XP_011522806.1:p.Leu248Arg
XM_011524507.2:c.134T>G	XP_011522809.1:p.Leu45Arg
XM_024450640.1:c.134T>G	XP_024306408.1:p.Leu45Arg
NM_199242.3:c.743T>G MANE Select	NP_954712.1:p.Leu248Arg