Canonical Allele Identifier: CA401099120

Gene: UNC13D

Linked Data

• MyVariant Identifiers: chr17:g.73832421T>A (hg19) ; chr17:g.75836340T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75836340T>A , CM000679.2:g.75836340T>A	GRCh38
NC_000017.10:g.73832421T>A , CM000679.1:g.73832421T>A	GRCh37
NC_000017.9:g.71344016T>A	NCBI36
NG_007266.1:g.13378A>T , LRG_122:g.13378A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000699510.1:c.323A>T	ENSP00000514405.1:p.Gln108Leu
ENST00000699511.1:c.565A>T
ENST00000207549.9:c.1388A>T MANE Select	ENSP00000207549.3:p.Gln463Leu
ENST00000207549.8:c.1388A>T	ENSP00000207549.3:p.Gln463Leu
ENST00000412096.6:c.1388A>T	ENSP00000388093.1:p.Gln463Leu
ENST00000586147.1:c.118-84A>T	ENSP00000466543.1:n.118-84A>T
ENST00000587105.1:c.507A>T
ENST00000591563.5:n.1658A>T
NM_199242.2:c.1388A>T , LRG_122t1:c.1388A>T	NP_954712.1:p.Gln463Leu
XM_011524504.1:c.1388A>T	XP_011522806.1:p.Gln463Leu
XM_011524505.1:c.1388A>T	XP_011522807.1:p.Gln463Leu
XM_011524506.1:c.1385A>T	XP_011522808.1:p.Gln462Leu
XM_011524507.1:c.779A>T	XP_011522809.1:p.Gln260Leu
XM_011524508.1:c.779A>T	XP_011522810.1:p.Gln260Leu
XM_011524504.2:c.1388A>T	XP_011522806.1:p.Gln463Leu
XM_011524507.2:c.779A>T	XP_011522809.1:p.Gln260Leu
XM_024450640.1:c.779A>T	XP_024306408.1:p.Gln260Leu
NM_199242.3:c.1388A>T MANE Select	NP_954712.1:p.Gln463Leu