Canonical Allele Identifier: CA2675565059
Gene: PURA HGNC NCBI

Linked Data

gnomAD v4: 5-140114016-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114016C>G , CM000667.2:g.140114016C>G GRCh38
NC_000005.9:g.139493601C>G , CM000667.1:g.139493601C>G GRCh37
NC_000005.8:g.139473785C>G NCBI36
NG_041813.1:g.4894C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000505703.2:c.-141-25C>G ENSP00000498560.1:n.-141-25C>G
ENST00000651386.1:c.-141-25C>G ENSP00000499133.1:n.-141-25C>G
ENST00000502351.1:n.283-25C>G
ENST00000505703.1:n.325-25C>G
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