Canonical Allele Identifier: CA502050243

Gene: UNC13D

Linked Data

• gnomAD v4: 17-75836245-A-G
• MyVariant Identifiers: chr17:g.73832326A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75836245A>G , CM000679.2:g.75836245A>G	GRCh38
NC_000017.10:g.73832326A>G , CM000679.1:g.73832326A>G	GRCh37
NC_000017.9:g.71343921A>G	NCBI36
NG_007266.1:g.13473T>C , LRG_122:g.13473T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000699510.1:c.336T>C	ENSP00000514405.1:p.Thr112=
ENST00000699511.1:c.578T>C
ENST00000207549.9:c.1401T>C MANE Select	ENSP00000207549.3:p.Thr467=
ENST00000207549.8:c.1401T>C	ENSP00000207549.3:p.Thr467=
ENST00000412096.6:c.1401T>C	ENSP00000388093.1:p.Thr467=
ENST00000586147.1:c.129T>C	ENSP00000466543.1:p.Thr43=
ENST00000587105.1:c.520T>C
ENST00000591563.5:n.1671T>C
NM_199242.2:c.1401T>C , LRG_122t1:c.1401T>C	NP_954712.1:p.Thr467=
XM_011524504.1:c.1401T>C	XP_011522806.1:p.Thr467=
XM_011524505.1:c.1401T>C	XP_011522807.1:p.Thr467=
XM_011524506.1:c.1398T>C	XP_011522808.1:p.Thr466=
XM_011524507.1:c.792T>C	XP_011522809.1:p.Thr264=
XM_011524508.1:c.792T>C	XP_011522810.1:p.Thr264=
XM_011524504.2:c.1401T>C	XP_011522806.1:p.Thr467=
XM_011524507.2:c.792T>C	XP_011522809.1:p.Thr264=
XM_024450640.1:c.792T>C	XP_024306408.1:p.Thr264=
NM_199242.3:c.1401T>C MANE Select	NP_954712.1:p.Thr467=