Canonical Allele Identifier: CA2275706896
Gene: UNC13D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75836238A= , CM000679.2:g.75836238A= GRCh38
NC_000017.10:g.73832319A= , CM000679.1:g.73832319A= GRCh37
NC_000017.9:g.71343914A= NCBI36
NG_007266.1:g.13480T= , LRG_122:g.13480T=

Transcript Alleles

HGVS Amino-acid change
ENST00000699510.1:c.343T= ENSP00000514405.1:p.Phe115=
ENST00000699511.1:c.585T=
ENST00000207549.9:c.1408T= MANE Select ENSP00000207549.3:p.Phe470=
ENST00000207549.8:c.1408T= ENSP00000207549.3:p.Phe470=
ENST00000412096.6:c.1408T= ENSP00000388093.1:p.Phe470=
ENST00000586147.1:c.136T= ENSP00000466543.1:p.Phe46=
ENST00000587105.1:c.527T=
ENST00000591563.5:n.1678T=
NM_199242.2:c.1408T= , LRG_122t1:c.1408T= NP_954712.1:p.Phe470=
XM_011524504.1:c.1408T= XP_011522806.1:p.Phe470=
XM_011524505.1:c.1408T= XP_011522807.1:p.Phe470=
XM_011524506.1:c.1405T= XP_011522808.1:p.Phe469=
XM_011524507.1:c.799T= XP_011522809.1:p.Phe267=
XM_011524508.1:c.799T= XP_011522810.1:p.Phe267=
XM_011524504.2:c.1408T= XP_011522806.1:p.Phe470=
XM_011524507.2:c.799T= XP_011522809.1:p.Phe267=
XM_024450640.1:c.799T= XP_024306408.1:p.Phe267=
NM_199242.3:c.1408T= MANE Select NP_954712.1:p.Phe470=