Canonical Allele Identifier: CA804698437
Gene: PURA HGNC NCBI

Linked Data

dbSNP Id: rs1441850187
gnomAD v3: 5-140114012-G-A
gnomAD v4: 5-140114012-G-A
MyVariant Identifiers: chr5:g.139493597G>A (hg19) chr5:g.140114012G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114012G>A , CM000667.2:g.140114012G>A GRCh38
NC_000005.9:g.139493597G>A , CM000667.1:g.139493597G>A GRCh37
NC_000005.8:g.139473781G>A NCBI36
NG_041813.1:g.4890G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000505703.2:c.-141-29G>A ENSP00000498560.1:n.-141-29G>A
ENST00000651386.1:c.-141-29G>A ENSP00000499133.1:n.-141-29G>A
ENST00000502351.1:n.283-29G>A
ENST00000505703.1:n.325-29G>A
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