Canonical Allele Identifier: CA401107126

Gene: UNC13D

Linked Data

• MyVariant Identifiers: chr17:g.73836100T>C (hg19) ; chr17:g.75840019T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75840019T>C , CM000679.2:g.75840019T>C	GRCh38
NC_000017.10:g.73836100T>C , CM000679.1:g.73836100T>C	GRCh37
NC_000017.9:g.71347695T>C	NCBI36
NG_007266.1:g.9699A>G , LRG_122:g.9699A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000587504.6:c.931A>G	ENSP00000514388.1:p.Arg311Gly
ENST00000592386.6:c.932A>G	ENSP00000466826.2:p.Glu311Gly
ENST00000699511.1:c.130A>G
ENST00000207549.9:c.950A>G MANE Select	ENSP00000207549.3:p.Glu317Gly
ENST00000207549.8:c.950A>G	ENSP00000207549.3:p.Glu317Gly
ENST00000412096.6:c.950A>G	ENSP00000388093.1:p.Glu317Gly
ENST00000586147.1:c.118-3763A>G	ENSP00000466543.1:n.118-3763A>G
ENST00000587105.1:c.172A>G
ENST00000587504.5:n.953A>G
ENST00000591563.5:n.1145A>G
ENST00000592386.5:c.929A>G	ENSP00000466826.1:p.Glu310Gly
NM_199242.2:c.950A>G , LRG_122t1:c.950A>G	NP_954712.1:p.Glu317Gly
XM_011524504.1:c.950A>G	XP_011522806.1:p.Glu317Gly
XM_011524505.1:c.950A>G	XP_011522807.1:p.Glu317Gly
XM_011524506.1:c.950A>G	XP_011522808.1:p.Glu317Gly
XM_011524507.1:c.341A>G	XP_011522809.1:p.Glu114Gly
XM_011524508.1:c.341A>G	XP_011522810.1:p.Glu114Gly
XM_011524504.2:c.950A>G	XP_011522806.1:p.Glu317Gly
XM_011524507.2:c.341A>G	XP_011522809.1:p.Glu114Gly
XM_024450640.1:c.341A>G	XP_024306408.1:p.Glu114Gly
NM_199242.3:c.950A>G MANE Select	NP_954712.1:p.Glu317Gly