Canonical Allele Identifier: CA8772291
Community Standard Title: NM_199242.3(UNC13D):c.3053C>A (p.Ala1018Asp)
Gene: UNC13D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75828885G>T , CM000679.2:g.75828885G>T GRCh38
NC_000017.10:g.73824966G>T , CM000679.1:g.73824966G>T GRCh37
NC_000017.9:g.71336561G>T NCBI36
NG_007266.1:g.20833C>A , LRG_122:g.20833C>A

Transcript Alleles

HGVS Amino-acid Change
NM_199242.3:c.3053C>A MANE Select NP_954712.1:p.Ala1018Asp
ENST00000207549.9:c.3053C>A MANE Select ENSP00000207549.3:p.Ala1018Asp
NM_199242.2:c.3053C>A , LRG_122t1:c.3053C>A NP_954712.1:p.Ala1018Asp
ENST00000207549.8:c.3053C>A ENSP00000207549.3:p.Ala1018Asp
ENST00000412096.6:c.3053C>A ENSP00000388093.1:p.Ala1018Asp
ENST00000586519.1:c.175C>A ENSP00000466149.1:p.Pro59Thr
ENST00000589670.5:c.219C>A
ENST00000699510.1:c.1919C>A ENSP00000514405.1:p.Ala640Asp
XM_011524504.1:c.3122C>A XP_011522806.1:p.Ala1041Asp
XM_011524504.2:c.3122C>A XP_011522806.1:p.Ala1041Asp
XM_011524505.1:c.3122C>A XP_011522807.1:p.Ala1041Asp
XM_011524506.1:c.3119C>A XP_011522808.1:p.Ala1040Asp
XM_011524507.1:c.2513C>A XP_011522809.1:p.Ala838Asp
XM_011524507.2:c.2513C>A XP_011522809.1:p.Ala838Asp
XM_011524508.1:c.2513C>A XP_011522810.1:p.Ala838Asp
XM_024450640.1:c.2513C>A XP_024306408.1:p.Ala838Asp