Canonical Allele Identifier: CA401098813

Gene: UNC13D

Linked Data

• dbSNP Id: rs886053423
• gnomAD v4: 17-75836238-A-C
• MyVariant Identifiers: chr17:g.73832319A>C (hg19) ; chr17:g.75836238A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75836238A>C , CM000679.2:g.75836238A>C	GRCh38
NC_000017.10:g.73832319A>C , CM000679.1:g.73832319A>C	GRCh37
NC_000017.9:g.71343914A>C	NCBI36
NG_007266.1:g.13480T>G , LRG_122:g.13480T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000699510.1:c.343T>G	ENSP00000514405.1:p.Phe115Val
ENST00000699511.1:c.585T>G
ENST00000207549.9:c.1408T>G MANE Select	ENSP00000207549.3:p.Phe470Val
ENST00000207549.8:c.1408T>G	ENSP00000207549.3:p.Phe470Val
ENST00000412096.6:c.1408T>G	ENSP00000388093.1:p.Phe470Val
ENST00000586147.1:c.136T>G	ENSP00000466543.1:p.Phe46Val
ENST00000587105.1:c.527T>G
ENST00000591563.5:n.1678T>G
NM_199242.2:c.1408T>G , LRG_122t1:c.1408T>G	NP_954712.1:p.Phe470Val
XM_011524504.1:c.1408T>G	XP_011522806.1:p.Phe470Val
XM_011524505.1:c.1408T>G	XP_011522807.1:p.Phe470Val
XM_011524506.1:c.1405T>G	XP_011522808.1:p.Phe469Val
XM_011524507.1:c.799T>G	XP_011522809.1:p.Phe267Val
XM_011524508.1:c.799T>G	XP_011522810.1:p.Phe267Val
XM_011524504.2:c.1408T>G	XP_011522806.1:p.Phe470Val
XM_011524507.2:c.799T>G	XP_011522809.1:p.Phe267Val
XM_024450640.1:c.799T>G	XP_024306408.1:p.Phe267Val
NM_199242.3:c.1408T>G MANE Select	NP_954712.1:p.Phe470Val