Canonical Allele Identifier: CA401073788

Gene: UNC13D

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75828065A>G , CM000679.2:g.75828065A>G	GRCh38
NC_000017.10:g.73824146A>G , CM000679.1:g.73824146A>G	GRCh37
NC_000017.9:g.71335741A>G	NCBI36
NG_007266.1:g.21653T>C , LRG_122:g.21653T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_199242.3:c.3173T>C MANE Select	NP_954712.1:p.Leu1058Pro
ENST00000207549.9:c.3173T>C MANE Select	ENSP00000207549.3:p.Leu1058Pro
NM_199242.2:c.3173T>C , LRG_122t1:c.3173T>C	NP_954712.1:p.Leu1058Pro
ENST00000207549.8:c.3173T>C	ENSP00000207549.3:p.Leu1058Pro
ENST00000412096.6:c.3173T>C	ENSP00000388093.1:p.Leu1058Pro
ENST00000586519.1:c.295T>C	ENSP00000466149.1:n.295T>C
ENST00000589670.5:c.339T>C
ENST00000699510.1:c.2039T>C	ENSP00000514405.1:p.Leu680Pro
XM_011524504.1:c.3242T>C	XP_011522806.1:p.Leu1081Pro
XM_011524504.2:c.3242T>C	XP_011522806.1:p.Leu1081Pro
XM_011524505.1:c.3242T>C	XP_011522807.1:p.Leu1081Pro
XM_011524506.1:c.3239T>C	XP_011522808.1:p.Leu1080Pro
XM_011524507.1:c.2633T>C	XP_011522809.1:p.Leu878Pro
XM_011524507.2:c.2633T>C	XP_011522809.1:p.Leu878Pro
XM_011524508.1:c.2633T>C	XP_011522810.1:p.Leu878Pro
XM_024450640.1:c.2633T>C	XP_024306408.1:p.Leu878Pro