Canonical Allele Identifier: CA401098903

Gene: UNC13D

Linked Data

• gnomAD v4: 17-75836246-G-A
• MyVariant Identifiers: chr17:g.73832327G>A (hg19) ; chr17:g.75836246G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75836246G>A , CM000679.2:g.75836246G>A	GRCh38
NC_000017.10:g.73832327G>A , CM000679.1:g.73832327G>A	GRCh37
NC_000017.9:g.71343922G>A	NCBI36
NG_007266.1:g.13472C>T , LRG_122:g.13472C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000699510.1:c.335C>T	ENSP00000514405.1:p.Thr112Ile
ENST00000699511.1:c.577C>T
ENST00000207549.9:c.1400C>T MANE Select	ENSP00000207549.3:p.Thr467Ile
ENST00000207549.8:c.1400C>T	ENSP00000207549.3:p.Thr467Ile
ENST00000412096.6:c.1400C>T	ENSP00000388093.1:p.Thr467Ile
ENST00000586147.1:c.128C>T	ENSP00000466543.1:p.Thr43Ile
ENST00000587105.1:c.519C>T
ENST00000591563.5:n.1670C>T
NM_199242.2:c.1400C>T , LRG_122t1:c.1400C>T	NP_954712.1:p.Thr467Ile
XM_011524504.1:c.1400C>T	XP_011522806.1:p.Thr467Ile
XM_011524505.1:c.1400C>T	XP_011522807.1:p.Thr467Ile
XM_011524506.1:c.1397C>T	XP_011522808.1:p.Thr466Ile
XM_011524507.1:c.791C>T	XP_011522809.1:p.Thr264Ile
XM_011524508.1:c.791C>T	XP_011522810.1:p.Thr264Ile
XM_011524504.2:c.1400C>T	XP_011522806.1:p.Thr467Ile
XM_011524507.2:c.791C>T	XP_011522809.1:p.Thr264Ile
XM_024450640.1:c.791C>T	XP_024306408.1:p.Thr264Ile
NM_199242.3:c.1400C>T MANE Select	NP_954712.1:p.Thr467Ile