Canonical Allele Identifier: CA2580060573

Gene: VPS13D

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.12461455C>G , CM000663.2:g.12461455C>G	GRCh38
NC_000001.10:g.12521510C>G , CM000663.1:g.12521510C>G	GRCh37
NC_000001.9:g.12444097C>G	NCBI36
NG_056877.1:g.236417C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015378.4:c.12662+1059C>G MANE Select	NP_056193.2:n.12662+1059C>G
ENST00000620676.6:c.12662+1059C>G MANE Select	ENSP00000478104.1:n.12662+1059C>G
NM_015378.3:c.12662+1059C>G	NP_056193.2:n.12662+1059C>G
NM_018156.3:c.12587+1059C>G	NP_060626.2:n.12587+1059C>G
NM_018156.4:c.12587+1059C>G	NP_060626.2:n.12587+1059C>G
ENST00000011700.10:c.9127+1059C>G
ENST00000543710.5:n.2148+1059C>G
ENST00000613099.4:c.12587+1059C>G	ENSP00000482233.1:n.12587+1059C>G
ENST00000620676.4:c.12662+1059C>G	ENSP00000478104.1:n.12662+1059C>G
ENST00000645371.1:c.1513+1059C>G
ENST00000646411.1:n.2695+1059C>G