Canonical Allele Identifier: CA2675565066
Gene: PURA HGNC NCBI

Linked Data

gnomAD v4: 5-140114023-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114023G>A , CM000667.2:g.140114023G>A GRCh38
NC_000005.9:g.139493608G>A , CM000667.1:g.139493608G>A GRCh37
NC_000005.8:g.139473792G>A NCBI36
NG_041813.1:g.4901G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000505703.2:c.-141-18G>A ENSP00000498560.1:n.-141-18G>A
ENST00000651386.1:c.-141-18G>A ENSP00000499133.1:n.-141-18G>A
ENST00000502351.1:n.283-18G>A
ENST00000505703.1:n.325-18G>A
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