Canonical Allele Identifier: CA338489180

Gene: VPS13D

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.12416736T>C , CM000663.2:g.12416736T>C	GRCh38
NC_000001.10:g.12476789T>C , CM000663.1:g.12476789T>C	GRCh37
NC_000001.9:g.12399376T>C	NCBI36
NG_056877.1:g.191698T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_015378.4:c.12242T>C MANE Select	NP_056193.2:p.Val4081Ala
ENST00000620676.6:c.12242T>C MANE Select	ENSP00000478104.1:p.Val4081Ala
NM_015378.3:c.12242T>C	NP_056193.2:p.Val4081Ala
NM_018156.3:c.12167T>C	NP_060626.2:p.Val4056Ala
NM_018156.4:c.12167T>C	NP_060626.2:p.Val4056Ala
ENST00000011700.10:c.8707T>C
ENST00000476045.5:n.289T>C
ENST00000481484.1:n.269T>C
ENST00000543710.5:n.1826T>C
ENST00000613099.4:c.12167T>C	ENSP00000482233.1:p.Val4056Ala
ENST00000620676.4:c.12242T>C	ENSP00000478104.1:p.Val4081Ala
ENST00000645371.1:c.1032T>C
ENST00000646411.1:n.2275T>C