Canonical Allele Identifier: CA8773312

Gene: UNC13D

Linked Data

• dbSNP Id: rs748830247
• ExAC: 17:73836601 A / C
• gnomAD v3: 17-75840520-A-C
• gnomAD v4: 17-75840520-A-C
• MyVariant Identifiers: chr17:g.73836601A>C (hg19) ; chr17:g.75840520A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75840520A>C , CM000679.2:g.75840520A>C	GRCh38
NC_000017.10:g.73836601A>C , CM000679.1:g.73836601A>C	GRCh37
NC_000017.9:g.71348196A>C	NCBI36
NG_007266.1:g.9198T>G , LRG_122:g.9198T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585574.6:c.*162T>G	ENSP00000514389.1:n.*162T>G
ENST00000587504.6:c.683T>G	ENSP00000514388.1:p.Val228Gly
ENST00000592386.6:c.722T>G	ENSP00000466826.2:p.Val241Gly
ENST00000207549.9:c.740T>G MANE Select	ENSP00000207549.3:p.Val247Gly
ENST00000207549.8:c.740T>G	ENSP00000207549.3:p.Val247Gly
ENST00000412096.6:c.740T>G	ENSP00000388093.1:p.Val247Gly
ENST00000586147.1:c.117+3701T>G	ENSP00000466543.1:n.117+3701T>G
ENST00000587504.5:n.705T>G
ENST00000590762.5:c.683T>G	ENSP00000467653.1:p.Val228Gly
ENST00000591563.5:n.821T>G
ENST00000592386.5:c.719T>G	ENSP00000466826.1:p.Val240Gly
NM_199242.2:c.740T>G , LRG_122t1:c.740T>G	NP_954712.1:p.Val247Gly
XM_011524504.1:c.740T>G	XP_011522806.1:p.Val247Gly
XM_011524505.1:c.740T>G	XP_011522807.1:p.Val247Gly
XM_011524506.1:c.740T>G	XP_011522808.1:p.Val247Gly
XM_011524507.1:c.131T>G	XP_011522809.1:p.Val44Gly
XM_011524508.1:c.131T>G	XP_011522810.1:p.Val44Gly
XM_011524504.2:c.740T>G	XP_011522806.1:p.Val247Gly
XM_011524507.2:c.131T>G	XP_011522809.1:p.Val44Gly
XM_024450640.1:c.131T>G	XP_024306408.1:p.Val44Gly
NM_199242.3:c.740T>G MANE Select	NP_954712.1:p.Val247Gly