Canonical Allele Identifier: CA294086973
Gene: UNC13D HGNC NCBI

Linked Data

dbSNP Id: rs779610610
MyVariant Identifiers: chr17:g.75836131G>T (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75836131G>T , CM000679.2:g.75836131G>T GRCh38
NC_000017.10:g.73832212G>T , CM000679.1:g.73832212G>T GRCh37
NC_000017.9:g.71343807G>T NCBI36
NG_007266.1:g.13587C>A , LRG_122:g.13587C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000699510.1:c.382-22C>A ENSP00000514405.1:n.382-22C>A
ENST00000699511.1:c.624-22C>A
ENST00000207549.9:c.1447-22C>A MANE Select ENSP00000207549.3:n.1447-22C>A
ENST00000207549.8:c.1447-22C>A ENSP00000207549.3:n.1447-22C>A
ENST00000412096.6:c.1447-22C>A ENSP00000388093.1:n.1447-22C>A
ENST00000586147.1:c.175-22C>A ENSP00000466543.1:n.175-22C>A
ENST00000587105.1:c.566-22C>A
ENST00000591563.5:n.1717-22C>A
NM_199242.2:c.1447-22C>A , LRG_122t1:c.1447-22C>A NP_954712.1:n.1447-22C>A
XM_011524504.1:c.1447-22C>A XP_011522806.1:n.1447-22C>A
XM_011524505.1:c.1447-22C>A XP_011522807.1:n.1447-22C>A
XM_011524506.1:c.1444-22C>A XP_011522808.1:n.1444-22C>A
XM_011524507.1:c.838-22C>A XP_011522809.1:n.838-22C>A
XM_011524508.1:c.838-22C>A XP_011522810.1:n.838-22C>A
XM_011524504.2:c.1447-22C>A XP_011522806.1:n.1447-22C>A
XM_011524507.2:c.838-22C>A XP_011522809.1:n.838-22C>A
XM_024450640.1:c.838-22C>A XP_024306408.1:n.838-22C>A
NM_199242.3:c.1447-22C>A MANE Select NP_954712.1:n.1447-22C>A