Canonical Allele Identifier: CA401098783

Gene: UNC13D

Linked Data

• MyVariant Identifiers: chr17:g.73832316G>T (hg19) ; chr17:g.75836235G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75836235G>T , CM000679.2:g.75836235G>T	GRCh38
NC_000017.10:g.73832316G>T , CM000679.1:g.73832316G>T	GRCh37
NC_000017.9:g.71343911G>T	NCBI36
NG_007266.1:g.13483C>A , LRG_122:g.13483C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699510.1:c.346C>A	ENSP00000514405.1:p.His116Asn
ENST00000699511.1:c.588C>A
ENST00000207549.9:c.1411C>A MANE Select	ENSP00000207549.3:p.His471Asn
ENST00000207549.8:c.1411C>A	ENSP00000207549.3:p.His471Asn
ENST00000412096.6:c.1411C>A	ENSP00000388093.1:p.His471Asn
ENST00000586147.1:c.139C>A	ENSP00000466543.1:p.His47Asn
ENST00000587105.1:c.530C>A
ENST00000591563.5:n.1681C>A
NM_199242.2:c.1411C>A , LRG_122t1:c.1411C>A	NP_954712.1:p.His471Asn
XM_011524504.1:c.1411C>A	XP_011522806.1:p.His471Asn
XM_011524505.1:c.1411C>A	XP_011522807.1:p.His471Asn
XM_011524506.1:c.1408C>A	XP_011522808.1:p.His470Asn
XM_011524507.1:c.802C>A	XP_011522809.1:p.His268Asn
XM_011524508.1:c.802C>A	XP_011522810.1:p.His268Asn
XM_011524504.2:c.1411C>A	XP_011522806.1:p.His471Asn
XM_011524507.2:c.802C>A	XP_011522809.1:p.His268Asn
XM_024450640.1:c.802C>A	XP_024306408.1:p.His268Asn
NM_199242.3:c.1411C>A MANE Select	NP_954712.1:p.His471Asn