Canonical Allele Identifier: CA401098840

Gene: UNC13D

Linked Data

• dbSNP Id: rs1362209226
• gnomAD v2: 17-73832320-C-T
• gnomAD v4: 17-75836239-C-T
• MyVariant Identifiers: chr17:g.73832320C>T (hg19) ; chr17:g.75836239C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75836239C>T , CM000679.2:g.75836239C>T	GRCh38
NC_000017.10:g.73832320C>T , CM000679.1:g.73832320C>T	GRCh37
NC_000017.9:g.71343915C>T	NCBI36
NG_007266.1:g.13479G>A , LRG_122:g.13479G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000699510.1:c.342G>A	ENSP00000514405.1:p.Trp114Ter
ENST00000699511.1:c.584G>A
ENST00000207549.9:c.1407G>A MANE Select	ENSP00000207549.3:p.Trp469Ter
ENST00000207549.8:c.1407G>A	ENSP00000207549.3:p.Trp469Ter
ENST00000412096.6:c.1407G>A	ENSP00000388093.1:p.Trp469Ter
ENST00000586147.1:c.135G>A	ENSP00000466543.1:p.Trp45Ter
ENST00000587105.1:c.526G>A
ENST00000591563.5:n.1677G>A
NM_199242.2:c.1407G>A , LRG_122t1:c.1407G>A	NP_954712.1:p.Trp469Ter
XM_011524504.1:c.1407G>A	XP_011522806.1:p.Trp469Ter
XM_011524505.1:c.1407G>A	XP_011522807.1:p.Trp469Ter
XM_011524506.1:c.1404G>A	XP_011522808.1:p.Trp468Ter
XM_011524507.1:c.798G>A	XP_011522809.1:p.Trp266Ter
XM_011524508.1:c.798G>A	XP_011522810.1:p.Trp266Ter
XM_011524504.2:c.1407G>A	XP_011522806.1:p.Trp469Ter
XM_011524507.2:c.798G>A	XP_011522809.1:p.Trp266Ter
XM_024450640.1:c.798G>A	XP_024306408.1:p.Trp266Ter
NM_199242.3:c.1407G>A MANE Select	NP_954712.1:p.Trp469Ter