Canonical Allele Identifier: CA401093536
Community Standard Title: NM_199242.3(UNC13D):c.1721C>A (p.Ser574Ter)
Gene: UNC13D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75835653G>T , CM000679.2:g.75835653G>T GRCh38
NC_000017.10:g.73831734G>T , CM000679.1:g.73831734G>T GRCh37
NC_000017.9:g.71343329G>T NCBI36
NG_007266.1:g.14065C>A , LRG_122:g.14065C>A

Transcript Alleles

HGVS Amino-acid Change
NM_199242.3:c.1721C>A MANE Select NP_954712.1:p.Ser574Ter
ENST00000207549.9:c.1721C>A MANE Select ENSP00000207549.3:p.Ser574Ter
NM_199242.2:c.1721C>A , LRG_122t1:c.1721C>A NP_954712.1:p.Ser574Ter
ENST00000207549.8:c.1721C>A ENSP00000207549.3:p.Ser574Ter
ENST00000412096.6:c.1721C>A ENSP00000388093.1:p.Ser574Ter
ENST00000586147.1:c.449C>A ENSP00000466543.1:p.Ser150Ter
ENST00000591563.5:n.1991C>A
ENST00000699510.1:c.656C>A ENSP00000514405.1:p.Ser219Ter
ENST00000699511.1:c.898C>A
XM_011524504.1:c.1721C>A XP_011522806.1:p.Ser574Ter
XM_011524504.2:c.1721C>A XP_011522806.1:p.Ser574Ter
XM_011524505.1:c.1721C>A XP_011522807.1:p.Ser574Ter
XM_011524506.1:c.1718C>A XP_011522808.1:p.Ser573Ter
XM_011524507.1:c.1112C>A XP_011522809.1:p.Ser371Ter
XM_011524507.2:c.1112C>A XP_011522809.1:p.Ser371Ter
XM_011524508.1:c.1112C>A XP_011522810.1:p.Ser371Ter
XM_024450640.1:c.1112C>A XP_024306408.1:p.Ser371Ter