Canonical Allele Identifier: CA563504652
Gene: PURA HGNC NCBI

Linked Data

dbSNP Id: rs1291700288
gnomAD v2: 5-139493727-A-C
gnomAD v4: 5-140114142-A-C
MyVariant Identifiers: chr5:g.139493727A>C (hg19) chr5:g.140114142A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114142A>C , CM000667.2:g.140114142A>C GRCh38
NC_000005.9:g.139493727A>C , CM000667.1:g.139493727A>C GRCh37
NC_000005.8:g.139473911A>C NCBI36
NG_041813.1:g.5020A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000331327.5:c.-40A>C MANE Select ENSP00000332706.3:n.-40A>C
ENST00000505703.2:c.-40A>C ENSP00000498560.1:n.-40A>C
ENST00000651386.1:c.-40A>C ENSP00000499133.1:n.-40A>C
ENST00000331327.4:c.-40A>C ENSP00000332706.3:n.-40A>C
ENST00000502351.1:n.384A>C
ENST00000505703.1:n.426A>C
NM_005859.4:c.-40A>C NP_005850.1:n.-40A>C
NM_005859.5:c.-40A>C MANE Select NP_005850.1:n.-40A>C
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