Canonical Allele Identifier: CA128789363
Gene: PURA HGNC NCBI

Linked Data

dbSNP Id: rs549620352
gnomAD v2: 5-139493586-G-A
gnomAD v3: 5-140114001-G-A
gnomAD v4: 5-140114001-G-A
MyVariant Identifiers: chr5:g.139493586G>A (hg19) chr5:g.140114001G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114001G>A , CM000667.2:g.140114001G>A GRCh38
NC_000005.9:g.139493586G>A , CM000667.1:g.139493586G>A GRCh37
NC_000005.8:g.139473770G>A NCBI36
NG_041813.1:g.4879G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000505703.2:c.-141-40G>A ENSP00000498560.1:n.-141-40G>A
ENST00000651386.1:c.-141-40G>A ENSP00000499133.1:n.-141-40G>A
ENST00000502351.1:n.283-40G>A
ENST00000505703.1:n.325-40G>A
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