Canonical Allele Identifier: CA401098575

Gene: UNC13D

Linked Data

• dbSNP Id: rs1193440643
• gnomAD v2: 17-73832291-G-A
• MyVariant Identifiers: chr17:g.73832291G>A (hg19) ; chr17:g.75836210G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75836210G>A , CM000679.2:g.75836210G>A	GRCh38
NC_000017.10:g.73832291G>A , CM000679.1:g.73832291G>A	GRCh37
NC_000017.9:g.71343886G>A	NCBI36
NG_007266.1:g.13508C>T , LRG_122:g.13508C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699510.1:c.371C>T	ENSP00000514405.1:p.Pro124Leu
ENST00000699511.1:c.613C>T
ENST00000207549.9:c.1436C>T MANE Select	ENSP00000207549.3:p.Pro479Leu
ENST00000207549.8:c.1436C>T	ENSP00000207549.3:p.Pro479Leu
ENST00000412096.6:c.1436C>T	ENSP00000388093.1:p.Pro479Leu
ENST00000586147.1:c.164C>T	ENSP00000466543.1:p.Pro55Leu
ENST00000587105.1:c.555C>T
ENST00000591563.5:n.1706C>T
NM_199242.2:c.1436C>T , LRG_122t1:c.1436C>T	NP_954712.1:p.Pro479Leu
XM_011524504.1:c.1436C>T	XP_011522806.1:p.Pro479Leu
XM_011524505.1:c.1436C>T	XP_011522807.1:p.Pro479Leu
XM_011524506.1:c.1433C>T	XP_011522808.1:p.Pro478Leu
XM_011524507.1:c.827C>T	XP_011522809.1:p.Pro276Leu
XM_011524508.1:c.827C>T	XP_011522810.1:p.Pro276Leu
XM_011524504.2:c.1436C>T	XP_011522806.1:p.Pro479Leu
XM_011524507.2:c.827C>T	XP_011522809.1:p.Pro276Leu
XM_024450640.1:c.827C>T	XP_024306408.1:p.Pro276Leu
NM_199242.3:c.1436C>T MANE Select	NP_954712.1:p.Pro479Leu