Canonical Allele Identifier: CA2675565245
Gene: PURA HGNC NCBI

Linked Data

gnomAD v4: 5-140114120-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140114120A>G , CM000667.2:g.140114120A>G GRCh38
NC_000005.9:g.139493705A>G , CM000667.1:g.139493705A>G GRCh37
NC_000005.8:g.139473889A>G NCBI36
NG_041813.1:g.4998A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000331327.5:c.-62A>G MANE Select ENSP00000332706.3:n.-62A>G
ENST00000505703.2:c.-62A>G ENSP00000498560.1:n.-62A>G
ENST00000651386.1:c.-62A>G ENSP00000499133.1:n.-62A>G
ENST00000502351.1:n.362A>G
ENST00000505703.1:n.404A>G
NM_005859.5:c.-62A>G MANE Select NP_005850.1:n.-62A>G
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