Canonical Allele Identifier: CA2675565134
Gene: PURA HGNC NCBI

Linked Data

gnomAD v4: 5-140114074-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114074T>C , CM000667.2:g.140114074T>C GRCh38
NC_000005.9:g.139493659T>C , CM000667.1:g.139493659T>C GRCh37
NC_000005.8:g.139473843T>C NCBI36
NG_041813.1:g.4952T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000505703.2:c.-108T>C ENSP00000498560.1:n.-108T>C
ENST00000651386.1:c.-108T>C ENSP00000499133.1:n.-108T>C
ENST00000502351.1:n.316T>C
ENST00000505703.1:n.358T>C
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