Canonical Allele Identifier: CA401099144

Gene: UNC13D

Linked Data

• gnomAD v4: 17-75836341-G-T
• MyVariant Identifiers: chr17:g.73832422G>T (hg19) ; chr17:g.75836341G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75836341G>T , CM000679.2:g.75836341G>T	GRCh38
NC_000017.10:g.73832422G>T , CM000679.1:g.73832422G>T	GRCh37
NC_000017.9:g.71344017G>T	NCBI36
NG_007266.1:g.13377C>A , LRG_122:g.13377C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000699510.1:c.322C>A	ENSP00000514405.1:p.Gln108Lys
ENST00000699511.1:c.564C>A
ENST00000207549.9:c.1387C>A MANE Select	ENSP00000207549.3:p.Gln463Lys
ENST00000207549.8:c.1387C>A	ENSP00000207549.3:p.Gln463Lys
ENST00000412096.6:c.1387C>A	ENSP00000388093.1:p.Gln463Lys
ENST00000586147.1:c.118-85C>A	ENSP00000466543.1:n.118-85C>A
ENST00000587105.1:c.506C>A
ENST00000591563.5:n.1657C>A
NM_199242.2:c.1387C>A , LRG_122t1:c.1387C>A	NP_954712.1:p.Gln463Lys
XM_011524504.1:c.1387C>A	XP_011522806.1:p.Gln463Lys
XM_011524505.1:c.1387C>A	XP_011522807.1:p.Gln463Lys
XM_011524506.1:c.1384C>A	XP_011522808.1:p.Gln462Lys
XM_011524507.1:c.778C>A	XP_011522809.1:p.Gln260Lys
XM_011524508.1:c.778C>A	XP_011522810.1:p.Gln260Lys
XM_011524504.2:c.1387C>A	XP_011522806.1:p.Gln463Lys
XM_011524507.2:c.778C>A	XP_011522809.1:p.Gln260Lys
XM_024450640.1:c.778C>A	XP_024306408.1:p.Gln260Lys
NM_199242.3:c.1387C>A MANE Select	NP_954712.1:p.Gln463Lys