Canonical Allele Identifier: CA338489147

Gene: VPS13D

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.12416721G>A , CM000663.2:g.12416721G>A	GRCh38
NC_000001.10:g.12476774G>A , CM000663.1:g.12476774G>A	GRCh37
NC_000001.9:g.12399361G>A	NCBI36
NG_056877.1:g.191683G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015378.4:c.12227G>A MANE Select	NP_056193.2:p.Gly4076Glu
ENST00000620676.6:c.12227G>A MANE Select	ENSP00000478104.1:p.Gly4076Glu
NM_015378.3:c.12227G>A	NP_056193.2:p.Gly4076Glu
NM_018156.3:c.12152G>A	NP_060626.2:p.Gly4051Glu
NM_018156.4:c.12152G>A	NP_060626.2:p.Gly4051Glu
ENST00000011700.10:c.8692G>A
ENST00000476045.5:n.274G>A
ENST00000481484.1:n.254G>A
ENST00000543710.5:n.1811G>A
ENST00000613099.4:c.12152G>A	ENSP00000482233.1:p.Gly4051Glu
ENST00000620676.4:c.12227G>A	ENSP00000478104.1:p.Gly4076Glu
ENST00000645371.1:c.1017G>A
ENST00000646411.1:n.2260G>A