Canonical Allele Identifier: CA401110016

Gene: UNC13D

Linked Data

• MyVariant Identifiers: chr17:g.73836593G>C (hg19) ; chr17:g.75840512G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75840512G>C , CM000679.2:g.75840512G>C	GRCh38
NC_000017.10:g.73836593G>C , CM000679.1:g.73836593G>C	GRCh37
NC_000017.9:g.71348188G>C	NCBI36
NG_007266.1:g.9206C>G , LRG_122:g.9206C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000585574.6:c.*170C>G	ENSP00000514389.1:n.*170C>G
ENST00000587504.6:c.691C>G	ENSP00000514388.1:p.Leu231Val
ENST00000592386.6:c.730C>G	ENSP00000466826.2:p.Leu244Val
ENST00000207549.9:c.748C>G MANE Select	ENSP00000207549.3:p.Leu250Val
ENST00000207549.8:c.748C>G	ENSP00000207549.3:p.Leu250Val
ENST00000412096.6:c.748C>G	ENSP00000388093.1:p.Leu250Val
ENST00000586147.1:c.117+3709C>G	ENSP00000466543.1:n.117+3709C>G
ENST00000587504.5:n.713C>G
ENST00000590762.5:c.691C>G	ENSP00000467653.1:p.Leu231Val
ENST00000591563.5:n.829C>G
ENST00000592386.5:c.727C>G	ENSP00000466826.1:p.Leu243Val
NM_199242.2:c.748C>G , LRG_122t1:c.748C>G	NP_954712.1:p.Leu250Val
XM_011524504.1:c.748C>G	XP_011522806.1:p.Leu250Val
XM_011524505.1:c.748C>G	XP_011522807.1:p.Leu250Val
XM_011524506.1:c.748C>G	XP_011522808.1:p.Leu250Val
XM_011524507.1:c.139C>G	XP_011522809.1:p.Leu47Val
XM_011524508.1:c.139C>G	XP_011522810.1:p.Leu47Val
XM_011524504.2:c.748C>G	XP_011522806.1:p.Leu250Val
XM_011524507.2:c.139C>G	XP_011522809.1:p.Leu47Val
XM_024450640.1:c.139C>G	XP_024306408.1:p.Leu47Val
NM_199242.3:c.748C>G MANE Select	NP_954712.1:p.Leu250Val