Canonical Allele Identifier: CA8772483

Gene: UNC13D

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75831238G>C , CM000679.2:g.75831238G>C	GRCh38
NC_000017.10:g.73827319G>C , CM000679.1:g.73827319G>C	GRCh37
NC_000017.9:g.71338914G>C	NCBI36
NG_007266.1:g.18480C>G , LRG_122:g.18480C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_199242.3:c.2553+5C>G MANE Select	NP_954712.1:n.2553+5C>G
ENST00000207549.9:c.2553+5C>G MANE Select	ENSP00000207549.3:n.2553+5C>G
NM_199242.2:c.2553+5C>G , LRG_122t1:c.2553+5C>G	NP_954712.1:n.2553+5C>G
ENST00000207549.8:c.2553+5C>G	ENSP00000207549.3:n.2553+5C>G
ENST00000412096.6:c.2553+5C>G	ENSP00000388093.1:n.2553+5C>G
ENST00000699510.1:c.1419+5C>G	ENSP00000514405.1:n.1419+5C>G
XM_011524504.1:c.2622+5C>G	XP_011522806.1:n.2622+5C>G
XM_011524504.2:c.2622+5C>G	XP_011522806.1:n.2622+5C>G
XM_011524505.1:c.2622+5C>G	XP_011522807.1:n.2622+5C>G
XM_011524506.1:c.2619+5C>G	XP_011522808.1:n.2619+5C>G
XM_011524507.1:c.2013+5C>G	XP_011522809.1:n.2013+5C>G
XM_011524507.2:c.2013+5C>G	XP_011522809.1:n.2013+5C>G
XM_011524508.1:c.2013+5C>G	XP_011522810.1:n.2013+5C>G
XM_024450640.1:c.2013+5C>G	XP_024306408.1:n.2013+5C>G