Canonical Allele Identifier: CA8773010

Gene: UNC13D

Linked Data

• dbSNP Id: rs749112073
• ExAC: 17:73832420 C / A
• gnomAD v2: 17-73832420-C-A
• gnomAD v3: 17-75836339-C-A
• gnomAD v4: 17-75836339-C-A
• MyVariant Identifiers: chr17:g.73832420C>A (hg19) ; chr17:g.75836339C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75836339C>A , CM000679.2:g.75836339C>A	GRCh38
NC_000017.10:g.73832420C>A , CM000679.1:g.73832420C>A	GRCh37
NC_000017.9:g.71344015C>A	NCBI36
NG_007266.1:g.13379G>T , LRG_122:g.13379G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000699510.1:c.324G>T	ENSP00000514405.1:p.Gln108His
ENST00000699511.1:c.566G>T
ENST00000207549.9:c.1389G>T MANE Select	ENSP00000207549.3:p.Gln463His
ENST00000207549.8:c.1389G>T	ENSP00000207549.3:p.Gln463His
ENST00000412096.6:c.1389G>T	ENSP00000388093.1:p.Gln463His
ENST00000586147.1:c.118-83G>T	ENSP00000466543.1:n.118-83G>T
ENST00000587105.1:c.508G>T
ENST00000591563.5:n.1659G>T
NM_199242.2:c.1389G>T , LRG_122t1:c.1389G>T	NP_954712.1:p.Gln463His
XM_011524504.1:c.1389G>T	XP_011522806.1:p.Gln463His
XM_011524505.1:c.1389G>T	XP_011522807.1:p.Gln463His
XM_011524506.1:c.1386G>T	XP_011522808.1:p.Gln462His
XM_011524507.1:c.780G>T	XP_011522809.1:p.Gln260His
XM_011524508.1:c.780G>T	XP_011522810.1:p.Gln260His
XM_011524504.2:c.1389G>T	XP_011522806.1:p.Gln463His
XM_011524507.2:c.780G>T	XP_011522809.1:p.Gln260His
XM_024450640.1:c.780G>T	XP_024306408.1:p.Gln260His
NM_199242.3:c.1389G>T MANE Select	NP_954712.1:p.Gln463His