Canonical Allele Identifier: CA10630857

Gene: PURG WRN

Linked Data

• ClinVar Variation Id: 362778
• ClinVar RCV Id: RCV000303804
• dbSNP Id: rs886062876
• gnomAD v3: 8-31033613-C-T
• gnomAD v4: 8-31033613-C-T
• MyVariant Identifiers: chr8:g.30891129C>T (hg19) ; chr8:g.31033613C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31033613C>T , CM000670.2:g.31033613C>T	GRCh38
NC_000008.10:g.30891129C>T , CM000670.1:g.30891129C>T	GRCh37
NC_000008.9:g.31010671C>T	NCBI36
NG_008870.1:g.5352C>T , LRG_524:g.5352C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000475541.2:c.-831G>A (PURG)	ENSP00000418721.1:n.-831G>A
ENST00000339382.3:c.-831G>A (PURG)	ENSP00000345168.2:n.-831G>A
ENST00000475541.1:c.-831G>A (PURG)	ENSP00000418721.1:n.-831G>A
NM_000553.4:c.-437C>T , LRG_524t1:c.-437C>T (WRN)	NP_000544.2:n.-437C>T
NM_001015508.2:c.-831G>A (PURG)	NP_001015508.1:n.-831G>A
NM_000553.5:c.-437C>T (WRN)	NP_000544.2:n.-437C>T