Canonical Allele Identifier: CA401098731

Gene: UNC13D

Linked Data

• MyVariant Identifiers: chr17:g.73832309T>G (hg19) ; chr17:g.75836228T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75836228T>G , CM000679.2:g.75836228T>G	GRCh38
NC_000017.10:g.73832309T>G , CM000679.1:g.73832309T>G	GRCh37
NC_000017.9:g.71343904T>G	NCBI36
NG_007266.1:g.13490A>C , LRG_122:g.13490A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699510.1:c.353A>C	ENSP00000514405.1:p.Lys118Thr
ENST00000699511.1:c.595A>C
ENST00000207549.9:c.1418A>C MANE Select	ENSP00000207549.3:p.Lys473Thr
ENST00000207549.8:c.1418A>C	ENSP00000207549.3:p.Lys473Thr
ENST00000412096.6:c.1418A>C	ENSP00000388093.1:p.Lys473Thr
ENST00000586147.1:c.146A>C	ENSP00000466543.1:p.Lys49Thr
ENST00000587105.1:c.537A>C
ENST00000591563.5:n.1688A>C
NM_199242.2:c.1418A>C , LRG_122t1:c.1418A>C	NP_954712.1:p.Lys473Thr
XM_011524504.1:c.1418A>C	XP_011522806.1:p.Lys473Thr
XM_011524505.1:c.1418A>C	XP_011522807.1:p.Lys473Thr
XM_011524506.1:c.1415A>C	XP_011522808.1:p.Lys472Thr
XM_011524507.1:c.809A>C	XP_011522809.1:p.Lys270Thr
XM_011524508.1:c.809A>C	XP_011522810.1:p.Lys270Thr
XM_011524504.2:c.1418A>C	XP_011522806.1:p.Lys473Thr
XM_011524507.2:c.809A>C	XP_011522809.1:p.Lys270Thr
XM_024450640.1:c.809A>C	XP_024306408.1:p.Lys270Thr
NM_199242.3:c.1418A>C MANE Select	NP_954712.1:p.Lys473Thr