Canonical Allele Identifier: CA8773371

Gene: UNC13D

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75840816A>C , CM000679.2:g.75840816A>C	GRCh38
NC_000017.10:g.73836897A>C , CM000679.1:g.73836897A>C	GRCh37
NC_000017.9:g.71348492A>C	NCBI36
NG_007266.1:g.8902T>G , LRG_122:g.8902T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_199242.3:c.629T>G MANE Select	NP_954712.1:p.Val210Gly
ENST00000207549.9:c.629T>G MANE Select	ENSP00000207549.3:p.Val210Gly
NM_199242.2:c.629T>G , LRG_122t1:c.629T>G	NP_954712.1:p.Val210Gly
ENST00000207549.8:c.629T>G	ENSP00000207549.3:p.Val210Gly
ENST00000412096.6:c.629T>G	ENSP00000388093.1:p.Val210Gly
ENST00000585574.5:n.636T>G
ENST00000585574.6:c.*51T>G	ENSP00000514389.1:n.*51T>G
ENST00000586147.1:c.117+3405T>G	ENSP00000466543.1:n.117+3405T>G
ENST00000587495.1:n.215T>G
ENST00000587495.2:n.215T>G
ENST00000587504.5:n.594T>G
ENST00000587504.6:c.572T>G	ENSP00000514388.1:p.Val191Gly
ENST00000590762.5:c.572T>G	ENSP00000467653.1:p.Val191Gly
ENST00000591563.5:n.710T>G
ENST00000592386.5:c.608T>G	ENSP00000466826.1:p.Val203Gly
ENST00000592386.6:c.611T>G	ENSP00000466826.2:p.Val204Gly
XM_011524504.1:c.629T>G	XP_011522806.1:p.Val210Gly
XM_011524504.2:c.629T>G	XP_011522806.1:p.Val210Gly
XM_011524505.1:c.629T>G	XP_011522807.1:p.Val210Gly
XM_011524506.1:c.629T>G	XP_011522808.1:p.Val210Gly
XM_011524507.1:c.20T>G	XP_011522809.1:p.Val7Gly
XM_011524507.2:c.20T>G	XP_011522809.1:p.Val7Gly
XM_011524508.1:c.20T>G	XP_011522810.1:p.Val7Gly
XM_024450640.1:c.20T>G	XP_024306408.1:p.Val7Gly