Canonical Allele Identifier: CA401092827
Community Standard Title: NM_199242.3(UNC13D):c.1764G>A (p.Trp588Ter)
Gene: UNC13D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75835493C>T , CM000679.2:g.75835493C>T GRCh38
NC_000017.10:g.73831574C>T , CM000679.1:g.73831574C>T GRCh37
NC_000017.9:g.71343169C>T NCBI36
NG_007266.1:g.14225G>A , LRG_122:g.14225G>A

Transcript Alleles

HGVS Amino-acid Change
NM_199242.3:c.1764G>A MANE Select NP_954712.1:p.Trp588Ter
ENST00000207549.9:c.1764G>A MANE Select ENSP00000207549.3:p.Trp588Ter
NM_199242.2:c.1764G>A , LRG_122t1:c.1764G>A NP_954712.1:p.Trp588Ter
ENST00000207549.8:c.1764G>A ENSP00000207549.3:p.Trp588Ter
ENST00000412096.6:c.1764G>A ENSP00000388093.1:p.Trp588Ter
ENST00000586147.1:c.492G>A ENSP00000466543.1:p.Trp164Ter
ENST00000591563.5:n.2034G>A
ENST00000699510.1:c.699G>A ENSP00000514405.1:p.Trp233Ter
XM_011524504.1:c.1764G>A XP_011522806.1:p.Trp588Ter
XM_011524504.2:c.1764G>A XP_011522806.1:p.Trp588Ter
XM_011524505.1:c.1764G>A XP_011522807.1:p.Trp588Ter
XM_011524506.1:c.1761G>A XP_011522808.1:p.Trp587Ter
XM_011524507.1:c.1155G>A XP_011522809.1:p.Trp385Ter
XM_011524507.2:c.1155G>A XP_011522809.1:p.Trp385Ter
XM_011524508.1:c.1155G>A XP_011522810.1:p.Trp385Ter
XM_024450640.1:c.1155G>A XP_024306408.1:p.Trp385Ter