Canonical Allele Identifier: CA2639896605

Gene: UNC13D

Linked Data

• gnomAD v4: 17-75836130-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75836130T>G , CM000679.2:g.75836130T>G	GRCh38
NC_000017.10:g.73832211T>G , CM000679.1:g.73832211T>G	GRCh37
NC_000017.9:g.71343806T>G	NCBI36
NG_007266.1:g.13588A>C , LRG_122:g.13588A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699510.1:c.382-21A>C	ENSP00000514405.1:n.382-21A>C
ENST00000699511.1:c.624-21A>C
ENST00000207549.9:c.1447-21A>C MANE Select	ENSP00000207549.3:n.1447-21A>C
ENST00000207549.8:c.1447-21A>C	ENSP00000207549.3:n.1447-21A>C
ENST00000412096.6:c.1447-21A>C	ENSP00000388093.1:n.1447-21A>C
ENST00000586147.1:c.175-21A>C	ENSP00000466543.1:n.175-21A>C
ENST00000587105.1:c.566-21A>C
ENST00000591563.5:n.1717-21A>C
NM_199242.2:c.1447-21A>C , LRG_122t1:c.1447-21A>C	NP_954712.1:n.1447-21A>C
XM_011524504.1:c.1447-21A>C	XP_011522806.1:n.1447-21A>C
XM_011524505.1:c.1447-21A>C	XP_011522807.1:n.1447-21A>C
XM_011524506.1:c.1444-21A>C	XP_011522808.1:n.1444-21A>C
XM_011524507.1:c.838-21A>C	XP_011522809.1:n.838-21A>C
XM_011524508.1:c.838-21A>C	XP_011522810.1:n.838-21A>C
XM_011524504.2:c.1447-21A>C	XP_011522806.1:n.1447-21A>C
XM_011524507.2:c.838-21A>C	XP_011522809.1:n.838-21A>C
XM_024450640.1:c.838-21A>C	XP_024306408.1:n.838-21A>C
NM_199242.3:c.1447-21A>C MANE Select	NP_954712.1:n.1447-21A>C