Canonical Allele Identifier: CA252038
Gene: UNC13D HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.75831153A>C
GRCh37 chr17:g.73827234A>C
Revel Score:
ENST00000207549 (MANE Select) 0.952
ENST00000412096 0.952
ENST00000448606 0.952
ClinVar Allele:
17042
ClinVar RCV:
RCV000002080
ClinVar Variation:
2003
dbSNP:
121434354
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75831153A>C , CM000679.2:g.75831153A>C GRCh38
NC_000017.10:g.73827234A>C , CM000679.1:g.73827234A>C GRCh37
NC_000017.9:g.71338829A>C NCBI36
NG_007266.1:g.18565T>G , LRG_122:g.18565T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000699510.1:c.1436T>G ENSP00000514405.1:p.Phe479Cys
ENST00000207549.9:c.2570T>G MANE Select ENSP00000207549.3:p.Phe857Cys
ENST00000207549.8:c.2570T>G ENSP00000207549.3:p.Phe857Cys
ENST00000412096.6:c.2570T>G ENSP00000388093.1:p.Phe857Cys
NM_199242.2:c.2570T>G , LRG_122t1:c.2570T>G NP_954712.1:p.Phe857Cys
XM_011524504.1:c.2639T>G XP_011522806.1:p.Phe880Cys
XM_011524505.1:c.2639T>G XP_011522807.1:p.Phe880Cys
XM_011524506.1:c.2636T>G XP_011522808.1:p.Phe879Cys
XM_011524507.1:c.2030T>G XP_011522809.1:p.Phe677Cys
XM_011524508.1:c.2030T>G XP_011522810.1:p.Phe677Cys
XM_011524504.2:c.2639T>G XP_011522806.1:p.Phe880Cys
XM_011524507.2:c.2030T>G XP_011522809.1:p.Phe677Cys
XM_024450640.1:c.2030T>G XP_024306408.1:p.Phe677Cys
NM_199242.3:c.2570T>G MANE Select NP_954712.1:p.Phe857Cys
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