Canonical Allele Identifier: CA4643625

Gene: VPS37A

Linked Data

• ClinVar Variation Id: 1247255
• ClinVar RCV Id: RCV001656601 ; RCV002243364
• dbSNP Id: rs3793427
• ExAC: 8:17143830 G / C
• gnomAD v2: 8-17143830-G-C
• gnomAD v3: 8-17286321-G-C
• gnomAD v4: 8-17286321-G-C
• MyVariant Identifiers: chr8:g.17143830G>C (hg19) ; chr8:g.17286321G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.17286321G>C , CM000670.2:g.17286321G>C	GRCh38
NC_000008.10:g.17143830G>C , CM000670.1:g.17143830G>C	GRCh37
NC_000008.9:g.17188201G>C	NCBI36
NG_032996.1:g.44430G>C
NG_032996.2:g.44430G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000324849.9:c.1114-26G>C MANE Select	ENSP00000318629.4:n.1114-26G>C
ENST00000324849.8:c.1114-26G>C	ENSP00000318629.4:n.1114-26G>C
ENST00000425020.6:c.*661-26G>C	ENSP00000412824.2:n.*661-26G>C
ENST00000520140.5:c.*466-26G>C	ENSP00000428823.1:n.*466-26G>C
ENST00000521829.5:c.1039-26G>C	ENSP00000429680.1:n.1039-26G>C
ENST00000521976.1:c.433-26G>C	ENSP00000429858.1:n.433-26G>C
NM_001145152.1:c.1039-26G>C	NP_001138624.1:n.1039-26G>C
NM_152415.2:c.1114-26G>C	NP_689628.2:n.1114-26G>C
XM_005273400.2:c.844-26G>C	XP_005273457.1:n.844-26G>C
XM_005273401.2:c.844-26G>C	XP_005273458.1:n.844-26G>C
XM_006716286.1:c.1096-26G>C	XP_006716349.1:n.1096-26G>C
NM_001363167.1:c.1096-26G>C	NP_001350096.1:n.1096-26G>C
NM_001363168.1:c.844-26G>C	NP_001350097.1:n.844-26G>C
NM_001363169.1:c.844-26G>C	NP_001350098.1:n.844-26G>C
NM_001363170.1:c.826-26G>C	NP_001350099.1:n.826-26G>C
NM_001363171.1:c.826-26G>C	NP_001350100.1:n.826-26G>C
NM_001363172.1:c.826-26G>C	NP_001350101.1:n.826-26G>C
NM_001363173.1:c.1114-26G>C	NP_001350102.1:n.1114-26G>C
XM_017013021.2:c.1114-26G>C	XP_016868510.1:n.1114-26G>C
XR_002956593.1:n.3136G>C
XR_002956594.1:n.1363-26G>C
XR_002956595.1:n.1509-26G>C
XR_002956596.1:n.1459-26G>C
XR_002956597.1:n.1405-26G>C
XR_002956598.1:n.1515-26G>C
XR_002956599.1:n.473-26G>C
NM_152415.3:c.1114-26G>C MANE Select	NP_689628.2:n.1114-26G>C
NM_001363172.2:c.826-26G>C	NP_001350101.1:n.826-26G>C
NM_001363173.2:c.1114-26G>C	NP_001350102.1:n.1114-26G>C
NM_001145152.2:c.1039-26G>C	NP_001138624.1:n.1039-26G>C