Canonical Allele Identifier: CA401106972
Community Standard Title: NM_199242.3(UNC13D):c.952-2A>G
Gene: UNC13D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75839944T>C , CM000679.2:g.75839944T>C GRCh38
NC_000017.10:g.73836025T>C , CM000679.1:g.73836025T>C GRCh37
NC_000017.9:g.71347620T>C NCBI36
NG_007266.1:g.9774A>G , LRG_122:g.9774A>G

Transcript Alleles

HGVS Amino-acid Change
NM_199242.3:c.952-2A>G MANE Select NP_954712.1:n.952-2A>G
ENST00000207549.9:c.952-2A>G MANE Select ENSP00000207549.3:n.952-2A>G
NM_199242.2:c.952-2A>G , LRG_122t1:c.952-2A>G NP_954712.1:n.952-2A>G
ENST00000207549.8:c.952-2A>G ENSP00000207549.3:n.952-2A>G
ENST00000412096.6:c.952-2A>G ENSP00000388093.1:n.952-2A>G
ENST00000586147.1:c.118-3688A>G ENSP00000466543.1:n.118-3688A>G
ENST00000587105.1:c.174-2A>G
ENST00000587504.5:n.955-2A>G
ENST00000587504.6:c.933-2A>G ENSP00000514388.1:n.933-2A>G
ENST00000591563.5:n.1220A>G
ENST00000699511.1:c.132-2A>G
XM_011524504.1:c.952-2A>G XP_011522806.1:n.952-2A>G
XM_011524504.2:c.952-2A>G XP_011522806.1:n.952-2A>G
XM_011524505.1:c.952-2A>G XP_011522807.1:n.952-2A>G
XM_011524506.1:c.952-2A>G XP_011522808.1:n.952-2A>G
XM_011524507.1:c.343-2A>G XP_011522809.1:n.343-2A>G
XM_011524507.2:c.343-2A>G XP_011522809.1:n.343-2A>G
XM_011524508.1:c.343-2A>G XP_011522810.1:n.343-2A>G
XM_024450640.1:c.343-2A>G XP_024306408.1:n.343-2A>G