Canonical Allele Identifier: CA3437464

Gene: PURA

Linked Data

• ClinVar Variation Id: 475287
• ClinVar RCV Id: RCV000525611 ; RCV001534929 ; RCV002311875
• dbSNP Id: rs201822080
• ExAC: 5:139494216 C / G
• gnomAD v2: 5-139494216-C-G
• gnomAD v3: 5-140114631-C-G
• gnomAD v4: 5-140114631-C-G
• COSMIC: COSM5765900
• MyVariant Identifiers: chr5:g.139494216C>G (hg19) ; chr5:g.140114631C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140114631C>G , CM000667.2:g.140114631C>G	GRCh38
NC_000005.9:g.139494216C>G , CM000667.1:g.139494216C>G	GRCh37
NC_000005.8:g.139474400C>G	NCBI36
NG_041813.1:g.5509C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331327.5:c.450C>G MANE Select	ENSP00000332706.3:p.Arg150=
ENST00000651386.1:c.450C>G	ENSP00000499133.1:p.Arg150=
ENST00000331327.4:c.450C>G	ENSP00000332706.3:p.Arg150=
NM_005859.4:c.450C>G	NP_005850.1:p.Arg150=
NM_005859.5:c.450C>G MANE Select	NP_005850.1:p.Arg150=