Canonical Allele Identifier: CA2675565076
Gene: PURA HGNC NCBI

Linked Data

gnomAD v4: 5-140114031-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114031T>C , CM000667.2:g.140114031T>C GRCh38
NC_000005.9:g.139493616T>C , CM000667.1:g.139493616T>C GRCh37
NC_000005.8:g.139473800T>C NCBI36
NG_041813.1:g.4909T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000505703.2:c.-141-10T>C ENSP00000498560.1:n.-141-10T>C
ENST00000651386.1:c.-141-10T>C ENSP00000499133.1:n.-141-10T>C
ENST00000502351.1:n.283-10T>C
ENST00000505703.1:n.325-10T>C
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