Canonical Allele Identifier: CA401116656
Community Standard Title: NM_199242.3(UNC13D):c.252C>G (p.Tyr84Ter)
Gene: UNC13D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75843168G>C , CM000679.2:g.75843168G>C GRCh38
NC_000017.10:g.73839249G>C , CM000679.1:g.73839249G>C GRCh37
NC_000017.9:g.71350844G>C NCBI36
NG_007266.1:g.6550C>G , LRG_122:g.6550C>G

Transcript Alleles

HGVS Amino-acid Change
NM_199242.3:c.252C>G MANE Select NP_954712.1:p.Tyr84Ter
ENST00000207549.9:c.252C>G MANE Select ENSP00000207549.3:p.Tyr84Ter
NM_199242.2:c.252C>G , LRG_122t1:c.252C>G NP_954712.1:p.Tyr84Ter
ENST00000207549.8:c.252C>G ENSP00000207549.3:p.Tyr84Ter
ENST00000412096.6:c.252C>G ENSP00000388093.1:p.Tyr84Ter
ENST00000585574.5:n.228C>G
ENST00000585574.6:c.195C>G ENSP00000514389.1:p.Tyr65Ter
ENST00000586108.1:c.252C>G ENSP00000464749.1:p.Tyr84Ter
ENST00000586147.1:c.117+1053C>G ENSP00000466543.1:n.117+1053C>G
ENST00000587504.5:n.217C>G
ENST00000587504.6:c.195C>G ENSP00000514388.1:p.Tyr65Ter
ENST00000588774.1:n.929C>G
ENST00000588774.2:n.1039C>G
ENST00000590762.5:c.195C>G ENSP00000467653.1:p.Tyr65Ter
ENST00000591563.5:n.333C>G
ENST00000592386.5:c.231C>G ENSP00000466826.1:p.Tyr77Ter
ENST00000592386.6:c.234C>G ENSP00000466826.2:p.Tyr78Ter
ENST00000699512.1:c.147C>G ENSP00000514407.1:p.Tyr49Ter
ENST00000699513.1:c.252C>G ENSP00000514408.1:p.Tyr84Ter
XM_011524504.1:c.252C>G XP_011522806.1:p.Tyr84Ter
XM_011524504.2:c.252C>G XP_011522806.1:p.Tyr84Ter
XM_011524505.1:c.252C>G XP_011522807.1:p.Tyr84Ter
XM_011524506.1:c.252C>G XP_011522808.1:p.Tyr84Ter
XM_011524507.1:c.-358C>G XP_011522809.1:n.-358C>G
XM_011524507.2:c.-358C>G XP_011522809.1:n.-358C>G