Canonical Allele Identifier: CA2675565050
Gene: PURA HGNC NCBI

Linked Data

gnomAD v4: 5-140114002-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114002C>A , CM000667.2:g.140114002C>A GRCh38
NC_000005.9:g.139493587C>A , CM000667.1:g.139493587C>A GRCh37
NC_000005.8:g.139473771C>A NCBI36
NG_041813.1:g.4880C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000505703.2:c.-141-39C>A ENSP00000498560.1:n.-141-39C>A
ENST00000651386.1:c.-141-39C>A ENSP00000499133.1:n.-141-39C>A
ENST00000502351.1:n.283-39C>A
ENST00000505703.1:n.325-39C>A
Search 100 bp 5'
Search 100 bp 3'