Canonical Allele Identifier: CA401098939

Gene: UNC13D

Linked Data

• MyVariant Identifiers: chr17:g.73832331T>G (hg19) ; chr17:g.75836250T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75836250T>G , CM000679.2:g.75836250T>G	GRCh38
NC_000017.10:g.73832331T>G , CM000679.1:g.73832331T>G	GRCh37
NC_000017.9:g.71343926T>G	NCBI36
NG_007266.1:g.13468A>C , LRG_122:g.13468A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000699510.1:c.331A>C	ENSP00000514405.1:p.Thr111Pro
ENST00000699511.1:c.573A>C
ENST00000207549.9:c.1396A>C MANE Select	ENSP00000207549.3:p.Thr466Pro
ENST00000207549.8:c.1396A>C	ENSP00000207549.3:p.Thr466Pro
ENST00000412096.6:c.1396A>C	ENSP00000388093.1:p.Thr466Pro
ENST00000586147.1:c.124A>C	ENSP00000466543.1:p.Thr42Pro
ENST00000587105.1:c.515A>C
ENST00000591563.5:n.1666A>C
NM_199242.2:c.1396A>C , LRG_122t1:c.1396A>C	NP_954712.1:p.Thr466Pro
XM_011524504.1:c.1396A>C	XP_011522806.1:p.Thr466Pro
XM_011524505.1:c.1396A>C	XP_011522807.1:p.Thr466Pro
XM_011524506.1:c.1393A>C	XP_011522808.1:p.Thr465Pro
XM_011524507.1:c.787A>C	XP_011522809.1:p.Thr263Pro
XM_011524508.1:c.787A>C	XP_011522810.1:p.Thr263Pro
XM_011524504.2:c.1396A>C	XP_011522806.1:p.Thr466Pro
XM_011524507.2:c.787A>C	XP_011522809.1:p.Thr263Pro
XM_024450640.1:c.787A>C	XP_024306408.1:p.Thr263Pro
NM_199242.3:c.1396A>C MANE Select	NP_954712.1:p.Thr466Pro