Canonical Allele Identifier: CA6844298

Gene: VPS33A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.122232957G>A , CM000674.2:g.122232957G>A	GRCh38
NC_000012.11:g.122717504G>A , CM000674.1:g.122717504G>A	GRCh37
NC_000012.10:g.121283457G>A	NCBI36
NG_054909.1:g.38565C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022916.6:c.1452C>T MANE Select	NP_075067.2:p.Asp484=
ENST00000267199.9:c.1452C>T MANE Select	ENSP00000267199.3:p.Asp484=
NM_001351018.1:c.1419C>T	NP_001337947.1:p.Asp473=
NM_001351018.2:c.1419C>T	NP_001337947.1:p.Asp473=
NM_001351019.1:c.1404C>T	NP_001337948.1:p.Asp468=
NM_001351019.2:c.1404C>T	NP_001337948.1:p.Asp468=
NM_001351020.1:c.1131C>T	NP_001337949.1:p.Asp377=
NM_001351020.2:c.1131C>T	NP_001337949.1:p.Asp377=
NM_022916.4:c.1452C>T	NP_075067.2:p.Asp484=
NM_022916.5:c.1452C>T	NP_075067.2:p.Asp484=
ENST00000267199.8:c.1452C>T	ENSP00000267199.3:p.Asp484=
ENST00000535844.1:c.1335C>T	ENSP00000454454.1:p.Asp445=
ENST00000541169.1:n.456C>T
ENST00000543633.5:c.*1413C>T	ENSP00000442392.1:n.*1413C>T
ENST00000544349.6:c.1473C>T	ENSP00000494419.1:n.1473C>T
ENST00000643696.1:c.1575C>T	ENSP00000494935.1:p.Asp525=