Canonical Allele Identifier: CA393864093

Gene: VPS33B

Linked Data

• gnomAD v4: 15-91022246-C-A
• MyVariant Identifiers: chr15:g.91565476C>A (hg19) ; chr15:g.91022246C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.91022246C>A , CM000677.2:g.91022246C>A	GRCh38
NC_000015.9:g.91565476C>A , CM000677.1:g.91565476C>A	GRCh37
NC_000015.8:g.89366480C>A	NCBI36
NG_012162.1:g.5358G>T , LRG_884:g.5358G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333371.8:c.4G>T MANE Select	ENSP00000327650.4:p.Ala2Ser
ENST00000643536.1:c.4G>T	ENSP00000494429.1:p.Ala2Ser
ENST00000647331.1:c.4G>T	ENSP00000493953.1:p.Ala2Ser
ENST00000333371.7:c.4G>T	ENSP00000327650.3:p.Ala2Ser
ENST00000535906.1:c.4G>T	ENSP00000444053.1:p.Ala2Ser
ENST00000556096.6:n.358G>T
ENST00000557358.1:n.351G>T
ENST00000574755.5:c.4G>T	ENSP00000460413.1:p.Ala2Ser
NM_001289148.1:c.4G>T	NP_001276077.1:p.Ala2Ser
NM_001289149.1:c.-208G>T	NP_001276078.1:n.-208G>T
NM_018668.4:c.4G>T , LRG_884t1:c.4G>T	NP_061138.3:p.Ala2Ser
XM_005254884.2:c.4G>T	XP_005254941.1:p.Ala2Ser
XM_005254887.1:c.-127G>T	XP_005254944.1:n.-127G>T
XM_005254888.2:c.4G>T	XP_005254945.1:p.Ala2Ser
XM_011521448.1:c.-310G>T	XP_011519750.1:n.-310G>T
XM_017022075.2:c.-358G>T	XP_016877564.1:n.-358G>T
XM_017022076.1:c.-215G>T	XP_016877565.1:n.-215G>T
XR_001751213.2:n.340G>T
NM_018668.5:c.4G>T MANE Select	NP_061138.3:p.Ala2Ser