Canonical Allele Identifier: CA401099087

Gene: UNC13D

Linked Data

• MyVariant Identifiers: chr17:g.73832419C>A (hg19) ; chr17:g.75836338C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75836338C>A , CM000679.2:g.75836338C>A	GRCh38
NC_000017.10:g.73832419C>A , CM000679.1:g.73832419C>A	GRCh37
NC_000017.9:g.71344014C>A	NCBI36
NG_007266.1:g.13380G>T , LRG_122:g.13380G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000699510.1:c.324+1G>T	ENSP00000514405.1:n.324+1G>T
ENST00000699511.1:c.566+1G>T
ENST00000207549.9:c.1389+1G>T MANE Select	ENSP00000207549.3:n.1389+1G>T
ENST00000207549.8:c.1389+1G>T	ENSP00000207549.3:n.1389+1G>T
ENST00000412096.6:c.1389+1G>T	ENSP00000388093.1:n.1389+1G>T
ENST00000586147.1:c.118-82G>T	ENSP00000466543.1:n.118-82G>T
ENST00000587105.1:c.508+1G>T
ENST00000591563.5:n.1659+1G>T
NM_199242.2:c.1389+1G>T , LRG_122t1:c.1389+1G>T	NP_954712.1:n.1389+1G>T
XM_011524504.1:c.1389+1G>T	XP_011522806.1:n.1389+1G>T
XM_011524505.1:c.1389+1G>T	XP_011522807.1:n.1389+1G>T
XM_011524506.1:c.1386+1G>T	XP_011522808.1:n.1386+1G>T
XM_011524507.1:c.780+1G>T	XP_011522809.1:n.780+1G>T
XM_011524508.1:c.780+1G>T	XP_011522810.1:n.780+1G>T
XM_011524504.2:c.1389+1G>T	XP_011522806.1:n.1389+1G>T
XM_011524507.2:c.780+1G>T	XP_011522809.1:n.780+1G>T
XM_024450640.1:c.780+1G>T	XP_024306408.1:n.780+1G>T
NM_199242.3:c.1389+1G>T MANE Select	NP_954712.1:n.1389+1G>T