Canonical Allele Identifier: CA401110125

Gene: UNC13D

Linked Data

• gnomAD v4: 17-75840521-C-A
• MyVariant Identifiers: chr17:g.73836602C>A (hg19) ; chr17:g.75840521C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75840521C>A , CM000679.2:g.75840521C>A	GRCh38
NC_000017.10:g.73836602C>A , CM000679.1:g.73836602C>A	GRCh37
NC_000017.9:g.71348197C>A	NCBI36
NG_007266.1:g.9197G>T , LRG_122:g.9197G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585574.6:c.*161G>T	ENSP00000514389.1:n.*161G>T
ENST00000587504.6:c.682G>T	ENSP00000514388.1:p.Val228Phe
ENST00000592386.6:c.721G>T	ENSP00000466826.2:p.Val241Phe
ENST00000207549.9:c.739G>T MANE Select	ENSP00000207549.3:p.Val247Phe
ENST00000207549.8:c.739G>T	ENSP00000207549.3:p.Val247Phe
ENST00000412096.6:c.739G>T	ENSP00000388093.1:p.Val247Phe
ENST00000586147.1:c.117+3700G>T	ENSP00000466543.1:n.117+3700G>T
ENST00000587504.5:n.704G>T
ENST00000590762.5:c.682G>T	ENSP00000467653.1:p.Val228Phe
ENST00000591563.5:n.820G>T
ENST00000592386.5:c.718G>T	ENSP00000466826.1:p.Val240Phe
NM_199242.2:c.739G>T , LRG_122t1:c.739G>T	NP_954712.1:p.Val247Phe
XM_011524504.1:c.739G>T	XP_011522806.1:p.Val247Phe
XM_011524505.1:c.739G>T	XP_011522807.1:p.Val247Phe
XM_011524506.1:c.739G>T	XP_011522808.1:p.Val247Phe
XM_011524507.1:c.130G>T	XP_011522809.1:p.Val44Phe
XM_011524508.1:c.130G>T	XP_011522810.1:p.Val44Phe
XM_011524504.2:c.739G>T	XP_011522806.1:p.Val247Phe
XM_011524507.2:c.130G>T	XP_011522809.1:p.Val44Phe
XM_024450640.1:c.130G>T	XP_024306408.1:p.Val44Phe
NM_199242.3:c.739G>T MANE Select	NP_954712.1:p.Val247Phe