Canonical Allele Identifier: CA8772587
Community Standard Title: NM_199242.3(UNC13D):c.2341G>A (p.Val781Ile)
Gene: UNC13D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75834101C>T , CM000679.2:g.75834101C>T GRCh38
NC_000017.10:g.73830182C>T , CM000679.1:g.73830182C>T GRCh37
NC_000017.9:g.71341777C>T NCBI36
NG_007266.1:g.15617G>A , LRG_122:g.15617G>A

Transcript Alleles

HGVS Amino-acid Change
NM_199242.3:c.2341G>A MANE Select NP_954712.1:p.Val781Ile
ENST00000207549.9:c.2341G>A MANE Select ENSP00000207549.3:p.Val781Ile
NM_199242.2:c.2341G>A , LRG_122t1:c.2341G>A NP_954712.1:p.Val781Ile
ENST00000207549.8:c.2341G>A ENSP00000207549.3:p.Val781Ile
ENST00000412096.6:c.2341G>A ENSP00000388093.1:p.Val781Ile
ENST00000591563.5:n.2611G>A
ENST00000699510.1:c.1207G>A ENSP00000514405.1:p.Val403Ile
XM_011524504.1:c.2341G>A XP_011522806.1:p.Val781Ile
XM_011524504.2:c.2341G>A XP_011522806.1:p.Val781Ile
XM_011524505.1:c.2341G>A XP_011522807.1:p.Val781Ile
XM_011524506.1:c.2338G>A XP_011522808.1:p.Val780Ile
XM_011524507.1:c.1732G>A XP_011522809.1:p.Val578Ile
XM_011524507.2:c.1732G>A XP_011522809.1:p.Val578Ile
XM_011524508.1:c.1732G>A XP_011522810.1:p.Val578Ile
XM_024450640.1:c.1732G>A XP_024306408.1:p.Val578Ile