Canonical Allele Identifier: CA804698421
Gene: PURA HGNC NCBI

Linked Data

dbSNP Id: rs1185428313
gnomAD v3: 5-140113996-T-G
gnomAD v4: 5-140113996-T-G
MyVariant Identifiers: chr5:g.139493581T>G (hg19) chr5:g.140113996T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140113996T>G , CM000667.2:g.140113996T>G GRCh38
NC_000005.9:g.139493581T>G , CM000667.1:g.139493581T>G GRCh37
NC_000005.8:g.139473765T>G NCBI36
NG_041813.1:g.4874T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000505703.2:c.-141-45T>G ENSP00000498560.1:n.-141-45T>G
ENST00000651386.1:c.-141-45T>G ENSP00000499133.1:n.-141-45T>G
ENST00000502351.1:n.283-45T>G
ENST00000505703.1:n.325-45T>G
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