Canonical Allele Identifier: CA502050434

Gene: UNC13D

Linked Data

• MyVariant Identifiers: chr17:g.73836120G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75840039G>A , CM000679.2:g.75840039G>A	GRCh38
NC_000017.10:g.73836120G>A , CM000679.1:g.73836120G>A	GRCh37
NC_000017.9:g.71347715G>A	NCBI36
NG_007266.1:g.9679C>T , LRG_122:g.9679C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000587504.6:c.911C>T	ENSP00000514388.1:p.Pro304Leu
ENST00000592386.6:c.912C>T	ENSP00000466826.2:p.Ser304=
ENST00000699511.1:c.110C>T
ENST00000207549.9:c.930C>T MANE Select	ENSP00000207549.3:p.Ser310=
ENST00000207549.8:c.930C>T	ENSP00000207549.3:p.Ser310=
ENST00000412096.6:c.930C>T	ENSP00000388093.1:p.Ser310=
ENST00000586147.1:c.118-3783C>T	ENSP00000466543.1:n.118-3783C>T
ENST00000587105.1:c.152C>T
ENST00000587504.5:n.933C>T
ENST00000591563.5:n.1125C>T
ENST00000592386.5:c.909C>T	ENSP00000466826.1:p.Ser303=
NM_199242.2:c.930C>T , LRG_122t1:c.930C>T	NP_954712.1:p.Ser310=
XM_011524504.1:c.930C>T	XP_011522806.1:p.Ser310=
XM_011524505.1:c.930C>T	XP_011522807.1:p.Ser310=
XM_011524506.1:c.930C>T	XP_011522808.1:p.Ser310=
XM_011524507.1:c.321C>T	XP_011522809.1:p.Ser107=
XM_011524508.1:c.321C>T	XP_011522810.1:p.Ser107=
XM_011524504.2:c.930C>T	XP_011522806.1:p.Ser310=
XM_011524507.2:c.321C>T	XP_011522809.1:p.Ser107=
XM_024450640.1:c.321C>T	XP_024306408.1:p.Ser107=
NM_199242.3:c.930C>T MANE Select	NP_954712.1:p.Ser310=