Canonical Allele Identifier: CA401092049
Gene: UNC13D HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.75835410T>C
GRCh37 chr17:g.73831491T>C
Revel Score:
ENST00000207549 (MANE Select) 0.108
ENST00000412096 0.108
ENST00000448606 0.108
gnomAD v4:
chr17-75835410-T-C
Joint Max Group AF 0.00000183 (NFE)
Exomes Max Group AF 0.00000194 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75835410T>C , CM000679.2:g.75835410T>C GRCh38
NC_000017.10:g.73831491T>C , CM000679.1:g.73831491T>C GRCh37
NC_000017.9:g.71343086T>C NCBI36
NG_007266.1:g.14308A>G , LRG_122:g.14308A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000699510.1:c.782A>G ENSP00000514405.1:p.Glu261Gly
ENST00000207549.9:c.1847A>G MANE Select ENSP00000207549.3:p.Glu616Gly
ENST00000207549.8:c.1847A>G ENSP00000207549.3:p.Glu616Gly
ENST00000412096.6:c.1847A>G ENSP00000388093.1:p.Glu616Gly
ENST00000591563.5:n.2117A>G
NM_199242.2:c.1847A>G , LRG_122t1:c.1847A>G NP_954712.1:p.Glu616Gly
XM_011524504.1:c.1847A>G XP_011522806.1:p.Glu616Gly
XM_011524505.1:c.1847A>G XP_011522807.1:p.Glu616Gly
XM_011524506.1:c.1844A>G XP_011522808.1:p.Glu615Gly
XM_011524507.1:c.1238A>G XP_011522809.1:p.Glu413Gly
XM_011524508.1:c.1238A>G XP_011522810.1:p.Glu413Gly
XM_011524504.2:c.1847A>G XP_011522806.1:p.Glu616Gly
XM_011524507.2:c.1238A>G XP_011522809.1:p.Glu413Gly
XM_024450640.1:c.1238A>G XP_024306408.1:p.Glu413Gly
NM_199242.3:c.1847A>G MANE Select NP_954712.1:p.Glu616Gly
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