Canonical Allele Identifier: CA2675565060
Gene: PURA HGNC NCBI

Linked Data

gnomAD v4: 5-140114017-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114017T>C , CM000667.2:g.140114017T>C GRCh38
NC_000005.9:g.139493602T>C , CM000667.1:g.139493602T>C GRCh37
NC_000005.8:g.139473786T>C NCBI36
NG_041813.1:g.4895T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000505703.2:c.-141-24T>C ENSP00000498560.1:n.-141-24T>C
ENST00000651386.1:c.-141-24T>C ENSP00000499133.1:n.-141-24T>C
ENST00000502351.1:n.283-24T>C
ENST00000505703.1:n.325-24T>C
Search 100 bp 5'
Search 100 bp 3'