Canonical Allele Identifier: CA252035
Gene: UNC13D HGNC NCBI

Linked Data

ClinVar Variation Id: 2002
ClinVar RCV Id: RCV000002079
dbSNP Id: rs121434353

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75836662A>G , CM000679.2:g.75836662A>G GRCh38
NC_000017.10:g.73832743A>G , CM000679.1:g.73832743A>G GRCh37
NC_000017.9:g.71344338A>G NCBI36
NG_007266.1:g.13056T>C , LRG_122:g.13056T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000699510.1:c.143T>C ENSP00000514405.1:p.Leu48Pro
ENST00000699511.1:c.385T>C
ENST00000207549.9:c.1208T>C MANE Select ENSP00000207549.3:p.Leu403Pro
ENST00000207549.8:c.1208T>C ENSP00000207549.3:p.Leu403Pro
ENST00000412096.6:c.1208T>C ENSP00000388093.1:p.Leu403Pro
ENST00000586147.1:c.118-406T>C ENSP00000466543.1:n.118-406T>C
ENST00000587105.1:c.396-69T>C
ENST00000591563.5:n.1478T>C
NM_199242.2:c.1208T>C , LRG_122t1:c.1208T>C NP_954712.1:p.Leu403Pro
XM_011524504.1:c.1208T>C XP_011522806.1:p.Leu403Pro
XM_011524505.1:c.1208T>C XP_011522807.1:p.Leu403Pro
XM_011524506.1:c.1205T>C XP_011522808.1:p.Leu402Pro
XM_011524507.1:c.599T>C XP_011522809.1:p.Leu200Pro
XM_011524508.1:c.599T>C XP_011522810.1:p.Leu200Pro
XM_011524504.2:c.1208T>C XP_011522806.1:p.Leu403Pro
XM_011524507.2:c.599T>C XP_011522809.1:p.Leu200Pro
XM_024450640.1:c.599T>C XP_024306408.1:p.Leu200Pro
NM_199242.3:c.1208T>C MANE Select NP_954712.1:p.Leu403Pro