Canonical Allele Identifier: CA2675565095
Gene: PURA HGNC NCBI

Linked Data

gnomAD v4: 5-140114047-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114047C>A , CM000667.2:g.140114047C>A GRCh38
NC_000005.9:g.139493632C>A , CM000667.1:g.139493632C>A GRCh37
NC_000005.8:g.139473816C>A NCBI36
NG_041813.1:g.4925C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000505703.2:c.-135C>A ENSP00000498560.1:n.-135C>A
ENST00000651386.1:c.-135C>A ENSP00000499133.1:n.-135C>A
ENST00000502351.1:n.289C>A
ENST00000505703.1:n.331C>A
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