Canonical Allele Identifier: CA2275704156
Community Standard Title: NM_199242.3(UNC13D):c.2695C= (p.Arg899=)
Gene: UNC13D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75830592G= , CM000679.2:g.75830592G= GRCh38
NC_000017.10:g.73826673G= , CM000679.1:g.73826673G= GRCh37
NC_000017.9:g.71338268G= NCBI36
NG_007266.1:g.19126C= , LRG_122:g.19126C=

Transcript Alleles

HGVS Amino-acid Change
NM_199242.3:c.2695C= MANE Select NP_954712.1:p.Arg899=
ENST00000207549.9:c.2695C= MANE Select ENSP00000207549.3:p.Arg899=
NM_199242.2:c.2695C= , LRG_122t1:c.2695C= NP_954712.1:p.Arg899=
ENST00000207549.8:c.2695C= ENSP00000207549.3:p.Arg899=
ENST00000412096.6:c.2695C= ENSP00000388093.1:p.Arg899=
ENST00000590856.1:n.70C=
ENST00000699510.1:c.1561C= ENSP00000514405.1:p.Arg521=
XM_011524504.1:c.2764C= XP_011522806.1:p.Arg922=
XM_011524504.2:c.2764C= XP_011522806.1:p.Arg922=
XM_011524505.1:c.2764C= XP_011522807.1:p.Arg922=
XM_011524506.1:c.2761C= XP_011522808.1:p.Arg921=
XM_011524507.1:c.2155C= XP_011522809.1:p.Arg719=
XM_011524507.2:c.2155C= XP_011522809.1:p.Arg719=
XM_011524508.1:c.2155C= XP_011522810.1:p.Arg719=
XM_024450640.1:c.2155C= XP_024306408.1:p.Arg719=