Canonical Allele Identifier: CA401098844
Gene: UNC13D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75836240C>G , CM000679.2:g.75836240C>G GRCh38
NC_000017.10:g.73832321C>G , CM000679.1:g.73832321C>G GRCh37
NC_000017.9:g.71343916C>G NCBI36
NG_007266.1:g.13478G>C , LRG_122:g.13478G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000699510.1:c.341G>C ENSP00000514405.1:p.Trp114Ser
ENST00000699511.1:c.583G>C
ENST00000207549.9:c.1406G>C MANE Select ENSP00000207549.3:p.Trp469Ser
ENST00000207549.8:c.1406G>C ENSP00000207549.3:p.Trp469Ser
ENST00000412096.6:c.1406G>C ENSP00000388093.1:p.Trp469Ser
ENST00000586147.1:c.134G>C ENSP00000466543.1:p.Trp45Ser
ENST00000587105.1:c.525G>C
ENST00000591563.5:n.1676G>C
NM_199242.2:c.1406G>C , LRG_122t1:c.1406G>C NP_954712.1:p.Trp469Ser
XM_011524504.1:c.1406G>C XP_011522806.1:p.Trp469Ser
XM_011524505.1:c.1406G>C XP_011522807.1:p.Trp469Ser
XM_011524506.1:c.1403G>C XP_011522808.1:p.Trp468Ser
XM_011524507.1:c.797G>C XP_011522809.1:p.Trp266Ser
XM_011524508.1:c.797G>C XP_011522810.1:p.Trp266Ser
XM_011524504.2:c.1406G>C XP_011522806.1:p.Trp469Ser
XM_011524507.2:c.797G>C XP_011522809.1:p.Trp266Ser
XM_024450640.1:c.797G>C XP_024306408.1:p.Trp266Ser
NM_199242.3:c.1406G>C MANE Select NP_954712.1:p.Trp469Ser