Canonical Allele Identifier: CA8773670
Community Standard Title: NM_199242.3(UNC13D):c.114G>A (p.Pro38=)
Gene: UNC13D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75844224C>T , CM000679.2:g.75844224C>T GRCh38
NC_000017.10:g.73840305C>T , CM000679.1:g.73840305C>T GRCh37
NC_000017.9:g.71351900C>T NCBI36
NG_007266.1:g.5494G>A , LRG_122:g.5494G>A

Transcript Alleles

HGVS Amino-acid Change
NM_199242.3:c.114G>A MANE Select NP_954712.1:p.Pro38=
ENST00000207549.9:c.114G>A MANE Select ENSP00000207549.3:p.Pro38=
NM_199242.2:c.114G>A , LRG_122t1:c.114G>A NP_954712.1:p.Pro38=
ENST00000207549.8:c.114G>A ENSP00000207549.3:p.Pro38=
ENST00000412096.6:c.114G>A ENSP00000388093.1:p.Pro38=
ENST00000586108.1:c.114G>A ENSP00000464749.1:p.Pro38=
ENST00000586147.1:c.114G>A ENSP00000466543.1:p.Pro38=
ENST00000588774.1:n.90G>A
ENST00000588774.2:n.200G>A
ENST00000591563.5:n.195G>A
ENST00000592386.5:c.111G>A ENSP00000466826.1:p.Pro37=
ENST00000592386.6:c.114G>A ENSP00000466826.2:p.Pro38=
ENST00000699512.1:c.9G>A ENSP00000514407.1:p.Pro3=
ENST00000699513.1:c.114G>A ENSP00000514408.1:p.Pro38=
XM_011524504.1:c.114G>A XP_011522806.1:p.Pro38=
XM_011524504.2:c.114G>A XP_011522806.1:p.Pro38=
XM_011524505.1:c.114G>A XP_011522807.1:p.Pro38=
XM_011524506.1:c.114G>A XP_011522808.1:p.Pro38=
XM_011524507.1:c.-925G>A XP_011522809.1:n.-925G>A
XM_011524507.2:c.-925G>A XP_011522809.1:n.-925G>A