Canonical Allele Identifier: CA8773587
Community Standard Title: NM_199242.3(UNC13D):c.175G>A (p.Ala59Thr)
Gene: UNC13D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75843245C>T , CM000679.2:g.75843245C>T GRCh38
NC_000017.10:g.73839326C>T , CM000679.1:g.73839326C>T GRCh37
NC_000017.9:g.71350921C>T NCBI36
NG_007266.1:g.6473G>A , LRG_122:g.6473G>A

Transcript Alleles

HGVS Amino-acid Change
NM_199242.3:c.175G>A MANE Select NP_954712.1:p.Ala59Thr
ENST00000207549.9:c.175G>A MANE Select ENSP00000207549.3:p.Ala59Thr
NM_199242.2:c.175G>A , LRG_122t1:c.175G>A NP_954712.1:p.Ala59Thr
ENST00000207549.8:c.175G>A ENSP00000207549.3:p.Ala59Thr
ENST00000412096.6:c.175G>A ENSP00000388093.1:p.Ala59Thr
ENST00000585574.5:n.151G>A
ENST00000585574.6:c.118G>A ENSP00000514389.1:p.Ala40Thr
ENST00000586108.1:c.175G>A ENSP00000464749.1:p.Ala59Thr
ENST00000586147.1:c.117+976G>A ENSP00000466543.1:n.117+976G>A
ENST00000587504.5:n.140G>A
ENST00000587504.6:c.118G>A ENSP00000514388.1:p.Ala40Thr
ENST00000588774.1:n.852G>A
ENST00000588774.2:n.962G>A
ENST00000590762.5:c.118G>A ENSP00000467653.1:p.Ala40Thr
ENST00000591563.5:n.256G>A
ENST00000592386.5:c.154G>A ENSP00000466826.1:p.Ala52Thr
ENST00000592386.6:c.157G>A ENSP00000466826.2:p.Ala53Thr
ENST00000699512.1:c.70G>A ENSP00000514407.1:p.Ala24Thr
ENST00000699513.1:c.175G>A ENSP00000514408.1:p.Ala59Thr
XM_011524504.1:c.175G>A XP_011522806.1:p.Ala59Thr
XM_011524504.2:c.175G>A XP_011522806.1:p.Ala59Thr
XM_011524505.1:c.175G>A XP_011522807.1:p.Ala59Thr
XM_011524506.1:c.175G>A XP_011522808.1:p.Ala59Thr
XM_011524507.1:c.-435G>A XP_011522809.1:n.-435G>A
XM_011524507.2:c.-435G>A XP_011522809.1:n.-435G>A