Canonical Allele Identifier: CA10630864

Gene: PURG WRN

Linked Data

• ClinVar Variation Id: 362780
• ClinVar RCV Id: RCV000398283
• dbSNP Id: rs886062877
• gnomAD v3: 8-31033670-G-A
• gnomAD v4: 8-31033670-G-A
• MyVariant Identifiers: chr8:g.30891186G>A (hg19) ; chr8:g.31033670G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31033670G>A , CM000670.2:g.31033670G>A	GRCh38
NC_000008.10:g.30891186G>A , CM000670.1:g.30891186G>A	GRCh37
NC_000008.9:g.31010728G>A	NCBI36
NG_008870.1:g.5409G>A , LRG_524:g.5409G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475541.2:c.-888C>T (PURG)	ENSP00000418721.1:n.-888C>T
ENST00000339382.3:c.-888C>T (PURG)	ENSP00000345168.2:n.-888C>T
ENST00000475541.1:c.-888C>T (PURG)	ENSP00000418721.1:n.-888C>T
NM_000553.4:c.-380G>A , LRG_524t1:c.-380G>A (WRN)	NP_000544.2:n.-380G>A
NM_001015508.2:c.-888C>T (PURG)	NP_001015508.1:n.-888C>T
NM_000553.5:c.-380G>A (WRN)	NP_000544.2:n.-380G>A