Canonical Allele Identifier: CA639565224

Gene: PARVB

Linked Data

• dbSNP Id: rs1416050319
• gnomAD v2: 22-44526062-C-G
• gnomAD v3: 22-44130182-C-G
• gnomAD v4: 22-44130182-C-G
• MyVariant Identifiers: chr22:g.44526062C>G (hg19) ; chr22:g.44130182C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.44130182C>G , CM000684.2:g.44130182C>G	GRCh38
NC_000022.10:g.44526062C>G , CM000684.1:g.44526062C>G	GRCh37
NC_000022.9:g.42857395C>G	NCBI36
NG_029743.1:g.135972C>G
NG_029743.2:g.135972C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338758.12:c.377-1305C>G MANE Select	ENSP00000342492.6:n.377-1305C>G
ENST00000338758.11:c.377-1305C>G	ENSP00000342492.6:n.377-1305C>G
ENST00000404989.1:c.266-1305C>G	ENSP00000384353.1:n.266-1305C>G
ENST00000406477.7:c.476-1305C>G	ENSP00000384515.3:n.476-1305C>G
ENST00000444029.5:c.371-1305C>G	ENSP00000393758.1:n.371-1305C>G
ENST00000619710.4:c.221-1305C>G	ENSP00000482511.1:n.221-1305C>G
NM_001003828.2:c.476-1305C>G	NP_001003828.1:n.476-1305C>G
NM_001243385.1:c.266-1305C>G	NP_001230314.1:n.266-1305C>G
NM_001243386.1:c.221-1305C>G	NP_001230315.1:n.221-1305C>G
NM_013327.4:c.377-1305C>G	NP_037459.2:n.377-1305C>G
XM_005261596.1:c.221-1305C>G	XP_005261653.1:n.221-1305C>G
XM_017028792.2:c.377-1305C>G	XP_016884281.1:n.377-1305C>G
XM_024452235.1:c.431-1305C>G	XP_024308003.1:n.431-1305C>G
XM_024452236.1:c.476-1305C>G	XP_024308004.1:n.476-1305C>G
XM_024452237.1:c.266-1305C>G	XP_024308005.1:n.266-1305C>G
NM_001003828.3:c.476-1305C>G	NP_001003828.1:n.476-1305C>G
NM_001243385.2:c.266-1305C>G	NP_001230314.1:n.266-1305C>G
NM_001243386.2:c.221-1305C>G	NP_001230315.1:n.221-1305C>G
NM_013327.5:c.377-1305C>G MANE Select	NP_037459.2:n.377-1305C>G