Canonical Allele Identifier: CA401084457

Gene: UNC13D

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75832965C>T , CM000679.2:g.75832965C>T	GRCh38
NC_000017.10:g.73829046C>T , CM000679.1:g.73829046C>T	GRCh37
NC_000017.9:g.71340641C>T	NCBI36
NG_007266.1:g.16753G>A , LRG_122:g.16753G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_199242.3:c.2447+1G>A MANE Select	NP_954712.1:n.2447+1G>A
ENST00000207549.9:c.2447+1G>A MANE Select	ENSP00000207549.3:n.2447+1G>A
NM_199242.2:c.2447+1G>A , LRG_122t1:c.2447+1G>A	NP_954712.1:n.2447+1G>A
ENST00000207549.8:c.2447+1G>A	ENSP00000207549.3:n.2447+1G>A
ENST00000412096.6:c.2447+1G>A	ENSP00000388093.1:n.2447+1G>A
ENST00000586930.1:n.157+1G>A
ENST00000591563.5:n.2718G>A
ENST00000699510.1:c.1313+1G>A	ENSP00000514405.1:n.1313+1G>A
XM_011524504.1:c.2447+1G>A	XP_011522806.1:n.2447+1G>A
XM_011524504.2:c.2447+1G>A	XP_011522806.1:n.2447+1G>A
XM_011524505.1:c.2447+1G>A	XP_011522807.1:n.2447+1G>A
XM_011524506.1:c.2444+1G>A	XP_011522808.1:n.2444+1G>A
XM_011524507.1:c.1838+1G>A	XP_011522809.1:n.1838+1G>A
XM_011524507.2:c.1838+1G>A	XP_011522809.1:n.1838+1G>A
XM_011524508.1:c.1838+1G>A	XP_011522810.1:n.1838+1G>A
XM_024450640.1:c.1838+1G>A	XP_024306408.1:n.1838+1G>A