Canonical Allele Identifier: CA8773269

Gene: UNC13D

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75840272G>A , CM000679.2:g.75840272G>A	GRCh38
NC_000017.10:g.73836353G>A , CM000679.1:g.73836353G>A	GRCh37
NC_000017.9:g.71347948G>A	NCBI36
NG_007266.1:g.9446C>T , LRG_122:g.9446C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_199242.3:c.811C>T MANE Select	NP_954712.1:p.Pro271Ser
ENST00000207549.9:c.811C>T MANE Select	ENSP00000207549.3:p.Pro271Ser
NM_199242.2:c.811C>T , LRG_122t1:c.811C>T	NP_954712.1:p.Pro271Ser
ENST00000207549.8:c.811C>T	ENSP00000207549.3:p.Pro271Ser
ENST00000412096.6:c.811C>T	ENSP00000388093.1:p.Pro271Ser
ENST00000586147.1:c.117+3949C>T	ENSP00000466543.1:n.117+3949C>T
ENST00000587105.1:c.33C>T
ENST00000587504.5:n.814C>T
ENST00000587504.6:c.792C>T	ENSP00000514388.1:p.Thr264=
ENST00000590762.5:c.754C>T	ENSP00000467653.1:p.Pro252Ser
ENST00000591563.5:n.892C>T
ENST00000592386.5:c.790C>T	ENSP00000466826.1:p.Pro264Ser
ENST00000592386.6:c.793C>T	ENSP00000466826.2:p.Pro265Ser
XM_011524504.1:c.811C>T	XP_011522806.1:p.Pro271Ser
XM_011524504.2:c.811C>T	XP_011522806.1:p.Pro271Ser
XM_011524505.1:c.811C>T	XP_011522807.1:p.Pro271Ser
XM_011524506.1:c.811C>T	XP_011522808.1:p.Pro271Ser
XM_011524507.1:c.202C>T	XP_011522809.1:p.Pro68Ser
XM_011524507.2:c.202C>T	XP_011522809.1:p.Pro68Ser
XM_011524508.1:c.202C>T	XP_011522810.1:p.Pro68Ser
XM_024450640.1:c.202C>T	XP_024306408.1:p.Pro68Ser