Canonical Allele Identifier: CA338487344

Gene: VPS13D

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.12333357G>A , CM000663.2:g.12333357G>A	GRCh38
NC_000001.10:g.12393414G>A , CM000663.1:g.12393414G>A	GRCh37
NC_000001.9:g.12316001G>A	NCBI36
NG_056877.1:g.108319G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015378.4:c.8419G>A MANE Select	NP_056193.2:p.Val2807Met
ENST00000620676.6:c.8419G>A MANE Select	ENSP00000478104.1:p.Val2807Met
NM_015378.3:c.8419G>A	NP_056193.2:p.Val2807Met
NM_018156.3:c.8419G>A	NP_060626.2:p.Val2807Met
NM_018156.4:c.8419G>A	NP_060626.2:p.Val2807Met
ENST00000011700.10:c.4887G>A
ENST00000460333.5:n.2307G>A
ENST00000487188.1:n.1697G>A
ENST00000613099.4:c.8419G>A	ENSP00000482233.1:p.Val2807Met
ENST00000620676.4:c.8419G>A	ENSP00000478104.1:p.Val2807Met
ENST00000646917.1:c.3087G>A