Canonical Allele Identifier: CA401109972

Gene: UNC13D

Linked Data

• MyVariant Identifiers: chr17:g.73836590G>C (hg19) ; chr17:g.75840509G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75840509G>C , CM000679.2:g.75840509G>C	GRCh38
NC_000017.10:g.73836590G>C , CM000679.1:g.73836590G>C	GRCh37
NC_000017.9:g.71348185G>C	NCBI36
NG_007266.1:g.9209C>G , LRG_122:g.9209C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000585574.6:c.*173C>G	ENSP00000514389.1:n.*173C>G
ENST00000587504.6:c.694C>G	ENSP00000514388.1:p.Gln232Glu
ENST00000592386.6:c.733C>G	ENSP00000466826.2:p.Gln245Glu
ENST00000207549.9:c.751C>G MANE Select	ENSP00000207549.3:p.Gln251Glu
ENST00000207549.8:c.751C>G	ENSP00000207549.3:p.Gln251Glu
ENST00000412096.6:c.751C>G	ENSP00000388093.1:p.Gln251Glu
ENST00000586147.1:c.117+3712C>G	ENSP00000466543.1:n.117+3712C>G
ENST00000587504.5:n.716C>G
ENST00000590762.5:c.694C>G	ENSP00000467653.1:p.Gln232Glu
ENST00000591563.5:n.832C>G
ENST00000592386.5:c.730C>G	ENSP00000466826.1:p.Gln244Glu
NM_199242.2:c.751C>G , LRG_122t1:c.751C>G	NP_954712.1:p.Gln251Glu
XM_011524504.1:c.751C>G	XP_011522806.1:p.Gln251Glu
XM_011524505.1:c.751C>G	XP_011522807.1:p.Gln251Glu
XM_011524506.1:c.751C>G	XP_011522808.1:p.Gln251Glu
XM_011524507.1:c.142C>G	XP_011522809.1:p.Gln48Glu
XM_011524508.1:c.142C>G	XP_011522810.1:p.Gln48Glu
XM_011524504.2:c.751C>G	XP_011522806.1:p.Gln251Glu
XM_011524507.2:c.142C>G	XP_011522809.1:p.Gln48Glu
XM_024450640.1:c.142C>G	XP_024306408.1:p.Gln48Glu
NM_199242.3:c.751C>G MANE Select	NP_954712.1:p.Gln251Glu