Canonical Allele Identifier: CA294086816

Gene: UNC13D

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75835737T>C , CM000679.2:g.75835737T>C	GRCh38
NC_000017.10:g.73831818T>C , CM000679.1:g.73831818T>C	GRCh37
NC_000017.9:g.71343413T>C	NCBI36
NG_007266.1:g.13981A>G , LRG_122:g.13981A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_199242.3:c.1637A>G MANE Select	NP_954712.1:p.Asp546Gly
ENST00000207549.9:c.1637A>G MANE Select	ENSP00000207549.3:p.Asp546Gly
NM_199242.2:c.1637A>G , LRG_122t1:c.1637A>G	NP_954712.1:p.Asp546Gly
ENST00000207549.8:c.1637A>G	ENSP00000207549.3:p.Asp546Gly
ENST00000412096.6:c.1637A>G	ENSP00000388093.1:p.Asp546Gly
ENST00000586147.1:c.365A>G	ENSP00000466543.1:p.Asp122Gly
ENST00000587105.1:c.756A>G
ENST00000591563.5:n.1907A>G
ENST00000699510.1:c.572A>G	ENSP00000514405.1:p.Asp191Gly
ENST00000699511.1:c.814A>G
XM_011524504.1:c.1637A>G	XP_011522806.1:p.Asp546Gly
XM_011524504.2:c.1637A>G	XP_011522806.1:p.Asp546Gly
XM_011524505.1:c.1637A>G	XP_011522807.1:p.Asp546Gly
XM_011524506.1:c.1634A>G	XP_011522808.1:p.Asp545Gly
XM_011524507.1:c.1028A>G	XP_011522809.1:p.Asp343Gly
XM_011524507.2:c.1028A>G	XP_011522809.1:p.Asp343Gly
XM_011524508.1:c.1028A>G	XP_011522810.1:p.Asp343Gly
XM_024450640.1:c.1028A>G	XP_024306408.1:p.Asp343Gly