Canonical Allele Identifier: CA2838196133

Gene: VPS13D

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.12237191G>C , CM000663.2:g.12237191G>C	GRCh38
NC_000001.10:g.12297248G>C , CM000663.1:g.12297248G>C	GRCh37
NC_000001.9:g.12219835G>C	NCBI36
NG_056877.1:g.12153G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620676.6:c.97+2828G>C MANE Select	ENSP00000478104.1:n.97+2828G>C
ENST00000613099.4:c.97+2828G>C	ENSP00000482233.1:n.97+2828G>C
ENST00000620676.4:c.97+2828G>C	ENSP00000478104.1:n.97+2828G>C
NM_015378.3:c.97+2828G>C	NP_056193.2:n.97+2828G>C
NM_018156.3:c.97+2828G>C	NP_060626.2:n.97+2828G>C
NM_015378.4:c.97+2828G>C MANE Select	NP_056193.2:n.97+2828G>C
NM_018156.4:c.97+2828G>C	NP_060626.2:n.97+2828G>C