Canonical Allele Identifier: CA401110008

Gene: UNC13D

Linked Data

• MyVariant Identifiers: chr17:g.73836592A>T (hg19) ; chr17:g.75840511A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75840511A>T , CM000679.2:g.75840511A>T	GRCh38
NC_000017.10:g.73836592A>T , CM000679.1:g.73836592A>T	GRCh37
NC_000017.9:g.71348187A>T	NCBI36
NG_007266.1:g.9207T>A , LRG_122:g.9207T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585574.6:c.*171T>A	ENSP00000514389.1:n.*171T>A
ENST00000587504.6:c.692T>A	ENSP00000514388.1:p.Leu231Gln
ENST00000592386.6:c.731T>A	ENSP00000466826.2:p.Leu244Gln
ENST00000207549.9:c.749T>A MANE Select	ENSP00000207549.3:p.Leu250Gln
ENST00000207549.8:c.749T>A	ENSP00000207549.3:p.Leu250Gln
ENST00000412096.6:c.749T>A	ENSP00000388093.1:p.Leu250Gln
ENST00000586147.1:c.117+3710T>A	ENSP00000466543.1:n.117+3710T>A
ENST00000587504.5:n.714T>A
ENST00000590762.5:c.692T>A	ENSP00000467653.1:p.Leu231Gln
ENST00000591563.5:n.830T>A
ENST00000592386.5:c.728T>A	ENSP00000466826.1:p.Leu243Gln
NM_199242.2:c.749T>A , LRG_122t1:c.749T>A	NP_954712.1:p.Leu250Gln
XM_011524504.1:c.749T>A	XP_011522806.1:p.Leu250Gln
XM_011524505.1:c.749T>A	XP_011522807.1:p.Leu250Gln
XM_011524506.1:c.749T>A	XP_011522808.1:p.Leu250Gln
XM_011524507.1:c.140T>A	XP_011522809.1:p.Leu47Gln
XM_011524508.1:c.140T>A	XP_011522810.1:p.Leu47Gln
XM_011524504.2:c.749T>A	XP_011522806.1:p.Leu250Gln
XM_011524507.2:c.140T>A	XP_011522809.1:p.Leu47Gln
XM_024450640.1:c.140T>A	XP_024306408.1:p.Leu47Gln
NM_199242.3:c.749T>A MANE Select	NP_954712.1:p.Leu250Gln