Canonical Allele Identifier: CA410979850

Gene: PIWIL3

Linked Data

• ClinVar Variation Id: 3213358
• ClinVar RCV Id: RCV004506261
• gnomAD v4: 22-24748919-T-G
• MyVariant Identifiers: chr22:g.25144886T>G (hg19) ; chr22:g.24748919T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.24748919T>G , CM000684.2:g.24748919T>G	GRCh38
NC_000022.10:g.25144886T>G , CM000684.1:g.25144886T>G	GRCh37
NC_000022.9:g.23474886T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000527701.6:c.*1409A>C	ENSP00000435718.2:n.*1409A>C
ENST00000533313.6:c.*1363A>C	ENSP00000431843.2:n.*1363A>C
ENST00000616349.5:c.1437A>C MANE Select	ENSP00000479524.2:p.Gln479His
ENST00000332271.9:c.1437A>C	ENSP00000330031.5:p.Gln479His
ENST00000527701.5:c.1110A>C	ENSP00000435718.1:p.Gln370His
ENST00000532537.2:n.1858A>C
ENST00000533313.5:c.1110A>C	ENSP00000431843.1:p.Gln370His
ENST00000616349.4:c.1437A>C	ENSP00000479524.1:p.Gln479His
NM_001008496.3:c.1437A>C	NP_001008496.2:p.Gln479His
NM_001255975.1:c.1437A>C MANE Select	NP_001242904.1:p.Gln479His
NR_045648.1:n.2068A>C
NR_045649.1:n.1941A>C
NR_045649.2:n.1941A>C