Canonical Allele Identifier: CA4643099

Gene: VPS37A

Linked Data

• ClinVar Variation Id: 500376
• ClinVar RCV Id: RCV000594079 ; RCV001479000
• dbSNP Id: rs373895020
• ExAC: 8:17104852 C / A
• gnomAD v2: 8-17104852-C-A
• gnomAD v3: 8-17247343-C-A
• gnomAD v4: 8-17247343-C-A
• MyVariant Identifiers: chr8:g.17104852C>A (hg19) ; chr8:g.17247343C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.17247343C>A , CM000670.2:g.17247343C>A	GRCh38
NC_000008.10:g.17104852C>A , CM000670.1:g.17104852C>A	GRCh37
NC_000008.9:g.17149223C>A	NCBI36
NG_032996.1:g.5452C>A
NG_032996.2:g.5452C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324849.9:c.99C>A MANE Select	ENSP00000318629.4:p.Ile33=
ENST00000324849.8:c.99C>A	ENSP00000318629.4:p.Ile33=
ENST00000425020.6:c.99C>A	ENSP00000412824.2:p.Ile33=
ENST00000518038.1:c.99C>A	ENSP00000430456.1:p.Ile33=
ENST00000519381.1:c.99C>A	ENSP00000429227.1:p.Ile33=
ENST00000520140.5:c.99C>A	ENSP00000428823.1:p.Ile33=
ENST00000521005.1:c.99C>A	ENSP00000430933.1:p.Ile33=
ENST00000521829.5:c.99C>A	ENSP00000429680.1:p.Ile33=
NM_001145152.1:c.99C>A	NP_001138624.1:p.Ile33=
NM_152415.2:c.99C>A	NP_689628.2:p.Ile33=
XM_005273400.2:c.-217C>A	XP_005273457.1:n.-217C>A
XM_005273401.2:c.-167C>A	XP_005273458.1:n.-167C>A
XM_006716286.1:c.99C>A	XP_006716349.1:p.Ile33=
NM_001363167.1:c.99C>A	NP_001350096.1:p.Ile33=
NM_001363168.1:c.-217C>A	NP_001350097.1:n.-217C>A
NM_001363169.1:c.-167C>A	NP_001350098.1:n.-167C>A
NM_001363170.1:c.-217C>A	NP_001350099.1:n.-217C>A
NM_001363171.1:c.-167C>A	NP_001350100.1:n.-167C>A
NM_001363172.1:c.-217C>A	NP_001350101.1:n.-217C>A
NM_001363173.1:c.99C>A	NP_001350102.1:p.Ile33=
XM_017013021.2:c.99C>A	XP_016868510.1:p.Ile33=
XR_002956593.1:n.417C>A
XR_002956594.1:n.441C>A
XR_002956595.1:n.417C>A
XR_002956596.1:n.417C>A
XR_002956597.1:n.413C>A
XR_002956598.1:n.417C>A
NM_152415.3:c.99C>A MANE Select	NP_689628.2:p.Ile33=
NM_001363172.2:c.-217C>A	NP_001350101.1:n.-217C>A
NM_001363173.2:c.99C>A	NP_001350102.1:p.Ile33=
NM_001145152.2:c.99C>A	NP_001138624.1:p.Ile33=