Canonical Allele Identifier: CA401107098

Gene: UNC13D

Linked Data

• gnomAD v4: 17-75840017-C-G
• MyVariant Identifiers: chr17:g.73836098C>G (hg19) ; chr17:g.75840017C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75840017C>G , CM000679.2:g.75840017C>G	GRCh38
NC_000017.10:g.73836098C>G , CM000679.1:g.73836098C>G	GRCh37
NC_000017.9:g.71347693C>G	NCBI36
NG_007266.1:g.9701G>C , LRG_122:g.9701G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000587504.6:c.932+1G>C	ENSP00000514388.1:n.932+1G>C
ENST00000699511.1:c.131+1G>C
ENST00000207549.9:c.951+1G>C MANE Select	ENSP00000207549.3:n.951+1G>C
ENST00000207549.8:c.951+1G>C	ENSP00000207549.3:n.951+1G>C
ENST00000412096.6:c.951+1G>C	ENSP00000388093.1:n.951+1G>C
ENST00000586147.1:c.118-3761G>C	ENSP00000466543.1:n.118-3761G>C
ENST00000587105.1:c.173+1G>C
ENST00000587504.5:n.954+1G>C
ENST00000591563.5:n.1147G>C
NM_199242.2:c.951+1G>C , LRG_122t1:c.951+1G>C	NP_954712.1:n.951+1G>C
XM_011524504.1:c.951+1G>C	XP_011522806.1:n.951+1G>C
XM_011524505.1:c.951+1G>C	XP_011522807.1:n.951+1G>C
XM_011524506.1:c.951+1G>C	XP_011522808.1:n.951+1G>C
XM_011524507.1:c.342+1G>C	XP_011522809.1:n.342+1G>C
XM_011524508.1:c.342+1G>C	XP_011522810.1:n.342+1G>C
XM_011524504.2:c.951+1G>C	XP_011522806.1:n.951+1G>C
XM_011524507.2:c.342+1G>C	XP_011522809.1:n.342+1G>C
XM_024450640.1:c.342+1G>C	XP_024306408.1:n.342+1G>C
NM_199242.3:c.951+1G>C MANE Select	NP_954712.1:n.951+1G>C