Canonical Allele Identifier: CA8773398

Gene: UNC13D

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75840961T>C , CM000679.2:g.75840961T>C	GRCh38
NC_000017.10:g.73837042T>C , CM000679.1:g.73837042T>C	GRCh37
NC_000017.9:g.71348637T>C	NCBI36
NG_007266.1:g.8757A>G , LRG_122:g.8757A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_199242.3:c.610A>G MANE Select	NP_954712.1:p.Met204Val
ENST00000207549.9:c.610A>G MANE Select	ENSP00000207549.3:p.Met204Val
NM_199242.2:c.610A>G , LRG_122t1:c.610A>G	NP_954712.1:p.Met204Val
ENST00000207549.8:c.610A>G	ENSP00000207549.3:p.Met204Val
ENST00000412096.6:c.610A>G	ENSP00000388093.1:p.Met204Val
ENST00000585574.5:n.617A>G
ENST00000585574.6:c.*32A>G	ENSP00000514389.1:n.*32A>G
ENST00000586147.1:c.117+3260A>G	ENSP00000466543.1:n.117+3260A>G
ENST00000587495.1:n.196A>G
ENST00000587495.2:n.196A>G
ENST00000587504.5:n.575A>G
ENST00000587504.6:c.553A>G	ENSP00000514388.1:p.Met185Val
ENST00000590762.5:c.553A>G	ENSP00000467653.1:p.Met185Val
ENST00000591563.5:n.691A>G
ENST00000592386.5:c.589A>G	ENSP00000466826.1:p.Met197Val
ENST00000592386.6:c.592A>G	ENSP00000466826.2:p.Met198Val
XM_011524504.1:c.610A>G	XP_011522806.1:p.Met204Val
XM_011524504.2:c.610A>G	XP_011522806.1:p.Met204Val
XM_011524505.1:c.610A>G	XP_011522807.1:p.Met204Val
XM_011524506.1:c.610A>G	XP_011522808.1:p.Met204Val
XM_011524507.1:c.1A>G	XP_011522809.1:p.Met1Val
XM_011524507.2:c.1A>G	XP_011522809.1:p.Met1Val
XM_011524508.1:c.1A>G	XP_011522810.1:p.Met1Val
XM_024450640.1:c.1A>G	XP_024306408.1:p.Met1Val