Canonical Allele Identifier: CA401098876

Gene: UNC13D

Linked Data

• MyVariant Identifiers: chr17:g.73832324T>G (hg19) ; chr17:g.75836243T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75836243T>G , CM000679.2:g.75836243T>G	GRCh38
NC_000017.10:g.73832324T>G , CM000679.1:g.73832324T>G	GRCh37
NC_000017.9:g.71343919T>G	NCBI36
NG_007266.1:g.13475A>C , LRG_122:g.13475A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000699510.1:c.338A>C	ENSP00000514405.1:p.Glu113Ala
ENST00000699511.1:c.580A>C
ENST00000207549.9:c.1403A>C MANE Select	ENSP00000207549.3:p.Glu468Ala
ENST00000207549.8:c.1403A>C	ENSP00000207549.3:p.Glu468Ala
ENST00000412096.6:c.1403A>C	ENSP00000388093.1:p.Glu468Ala
ENST00000586147.1:c.131A>C	ENSP00000466543.1:p.Glu44Ala
ENST00000587105.1:c.522A>C
ENST00000591563.5:n.1673A>C
NM_199242.2:c.1403A>C , LRG_122t1:c.1403A>C	NP_954712.1:p.Glu468Ala
XM_011524504.1:c.1403A>C	XP_011522806.1:p.Glu468Ala
XM_011524505.1:c.1403A>C	XP_011522807.1:p.Glu468Ala
XM_011524506.1:c.1400A>C	XP_011522808.1:p.Glu467Ala
XM_011524507.1:c.794A>C	XP_011522809.1:p.Glu265Ala
XM_011524508.1:c.794A>C	XP_011522810.1:p.Glu265Ala
XM_011524504.2:c.1403A>C	XP_011522806.1:p.Glu468Ala
XM_011524507.2:c.794A>C	XP_011522809.1:p.Glu265Ala
XM_024450640.1:c.794A>C	XP_024306408.1:p.Glu265Ala
NM_199242.3:c.1403A>C MANE Select	NP_954712.1:p.Glu468Ala